At a Toronto International Endocine conference,Melbourne (Clayton) Prince Henry's Institute, Senior Fellow Prof. John FUNDER AO, MD,PhD, FRCP,FRACP pointed out that Dr. Michal LYTINSKI published in Polish before Dr.Jerome CONN.
Primary Aldosteronism is missed in most hypertensives.. 20% of the Canadian population are hypertensive( 6,800,000) 10% of hypertensives have Primary Aldosteronism (680,000). Mainly undiagnosed at present through "cost, ignorance & indifference". Less than 1% of those with Primary Aldosteronism are screened; especially indicated in Atrial fibrillation.
"Guidelines for Primary Hypertension need revision".
Low potassium is not the main sign. Resistant hypertension, weakness and nocturnal polyuria are clinical clues. Small adrenal tumours may be seen on CT scans.
A quick diagnostic test of eplerenone (INSPRA) or spironolactone (ALDACTONE) will immediately drop blood pressure in patients with Primary Aldosteronism. INSPRA does not cause gynaecomastia or erectile disfunction..
30 October 2011
26 October 2011
GENETICS of PRIMARY ALDOSTERONISM Prof J.FUNDER AO MD FRCP FRACP
Sciencewww.sciencemag.org
Prev
Table of Contents
Next Science 11 February 2011:
Vol. 331 no. 6018 pp. 685-686
DOI: 10.1126/science.1202887
•Perspective
Medicine
The Genetics of Primary Aldosteronism
John W. Funder
+ Author Affiliations
Prince Henry's Institute of Medical Research, Monash Medical Centre, Clayton, Victoria 3168, Australia.
E-mail: john.funder@princehenrys.org
Summary
Most people with consistently high blood pressure have “essential” hypertension, a physician's term for “no known cause.” Over the last 20 years, however, studies have shown that ∼1 in 10 patients do have an identifiable cause. Such patients overproduce the adrenal steroid hormone aldosterone (primary aldosteronism), which raises blood pressure and promotes sodium retention and potassium excretion. On page 768 of this issue, Choi et al. (1) report two different mutations in the gene encoding the potassium channel KCNJ5 in patients (8 of 22) with an aldosterone-producing adrenal adenoma (APA). A third mutation in the same gene is also identified in a father and two daughters with florid adrenal hyperplasia, a hereditary condition that is treated by removing the adrenals in early childhood. The findings have implications for understanding adrenal physiology and pathology.
Prev
Table of Contents
Next Science 11 February 2011:
Vol. 331 no. 6018 pp. 685-686
DOI: 10.1126/science.1202887
•Perspective
Medicine
The Genetics of Primary Aldosteronism
John W. Funder
+ Author Affiliations
Prince Henry's Institute of Medical Research, Monash Medical Centre, Clayton, Victoria 3168, Australia.
E-mail: john.funder@princehenrys.org
Summary
Most people with consistently high blood pressure have “essential” hypertension, a physician's term for “no known cause.” Over the last 20 years, however, studies have shown that ∼1 in 10 patients do have an identifiable cause. Such patients overproduce the adrenal steroid hormone aldosterone (primary aldosteronism), which raises blood pressure and promotes sodium retention and potassium excretion. On page 768 of this issue, Choi et al. (1) report two different mutations in the gene encoding the potassium channel KCNJ5 in patients (8 of 22) with an aldosterone-producing adrenal adenoma (APA). A third mutation in the same gene is also identified in a father and two daughters with florid adrenal hyperplasia, a hereditary condition that is treated by removing the adrenals in early childhood. The findings have implications for understanding adrenal physiology and pathology.
24 October 2011
ASTRAZENICA FREE PROSTATE CANCER PATIENT NOTEBOOK
Black-cover breastpocket-sized 35 page treatment notebook provided free by AstraZenica.including a PSA tracking graph.
22 October 2011
UK DAILY MAIL: CIRRHOSIS, DEMENTIA & DRINK
Don't drink on 3 days a week... As the liver crisis deepens, leading doctors warn of the danger
More than 16,000 people die from liver disease every year in the UK
Young regular drinkers and middle-class women particularly at risk
Royal College of Physicians say current guidelines must be rewritten
By Daniel Martin
Drinkers should have three alcohol-free days a week if they want to avoid the risk of liver disease, warn Britain’s most eminent doctors.
Current official guidance on healthy drinking limits is ‘extremely dangerous’ and must be rewritten – because it implies that drinking every day is fine, the Royal College of Physicians said.
Government advice states men should drink no more than four units a day and women no more than three.
New guidelines: Leading doctors now say drinkers should have at least three alcohol-free days a week
But this must also address the risks of daily drinking, doctors insisted.
They told MPs the risk of liver disease, alcohol dependence and serious illness increases if people drink every day rather than taking time off.
More...Stop the booze bombardment: Young people 'want protecting from alcohol advertising'
What TWO glasses of wine a day can do to your face in ten years
Hold the fries! Men who eat junk food are more likely to be infertile
They also urged Ministers to consider imposing stricter guidelines on pensioners – perhaps as little as seven units a week for older women and 11 for older men.
One unit is the equivalent of one small glass of wine (125ml) or half a pint of lager.
Limits: Government advice states men should drink no more than four units per day and women no more than three
Older people’s bodies are more affected by regular drinking, which puts them at risk of dementia, depression and falls, they said.
Yet pensioners are currently given the same guidelines as all adults.
In their submission to MPs on the Commons science and technology committee, the doctors said: ‘Government guidelines should recognise that hazardous drinking has two components: frequency of drinking and amount of drinking.
‘To ignore either of these components is scientifically unjustified.
‘A simple addition would remedy this – namely a recommendation that to remain within safe limits people have three alcohol-free days a week.’
They added: ‘The implied sanctioning of a pattern of regular daily drinking is potentially extremely dangerous.
The RCP disputes the claim that drinking every day will not accrue a significant health risk.
‘Frequency is an important risk factor for development of alcohol dependency and alcoholic liver disease.’
More than 16,000 people die from liver disease, usually caused by excessive drinking, every year in the UK.
It is Britain’s fifth biggest killer and the only major cause of death increasing year-on-year. Twice as many people die of it now than in 1991 and rates have soared by 13 per cent since 2005.
The British Liver Trust says liver disease is the biggest cause of premature death for women, and the second only to heart attacks for men.
The first drinking guidelines in 1987 – which were written by the RCP – stated that men should drink no more than 21 units a week and women no more than 14.
On top of this, everyone should take two or three days off a week. Doctors are angry that reforms to the advice in 1995 dropped this reference to alcohol-free days.
‘This in effect appeared to sanction daily or near-daily drinking, one of the key risk factors for alcohol-related harm and dependency,’ they said.
‘If the daily limit of four units was drunk with no drink-free days, this would be the equivalent of 28 units per week; a 30 per cent increase on the RCP’s guidelines.’
Habitual: Young regular drinkers are particularly at risk of developing liver disease later in life
The paper added: ‘Further studies have shown an increased risk of cirrhosis for those who drink daily or near-daily compared to those who drink periodically or intermittently.’
Young regular drinkers were particularly at risk, it said.
A 2009 study showed increases in UK liver deaths ‘are the result of daily or near-daily heavy drinking, not episodic or binge drinking. This regular drinking pattern is discernable at an early age’, the paper said.
Government experts expect the cost of treating people with liver disease will soar by 50 per cent in four years to more than £2billion.
Middle-class women are particularly at risk of daily drinking as they often have a glass or two of wine after work, followed by more at the weekend.
Lower limits should be considered for older people, as even modest levels of alcohol consumption can have a more profound effect on their bodies ‘due to physiological changes associated with ageing’, the paper said.
‘There is concern current guidelines are not appropriate for older people,’ it added.
Sir Ian Gilmore, RCP special adviser on alcohol, said: ‘We recommend a safe limit of 0-21 units a week for men and 0-14 units a week for women provided the total amount is not drunk in one or two bouts and that there are two to three alcohol-free days a week.
‘At these levels, most individuals are unlikely to come to harm.’
In June, a Royal College of Psychiatrists report called for a limit of 11 units a week for men aged over 65 and seven for women of this age.
The RCP quoted these suggested limits but did not explicitly endorse them.
Read more: http://www.dailymail.co.uk/news/article-2052070/Alcohol-abuse-Dont-drink-3-days-week-avoid-liver-disease.html#ixzz1bVrk6v8M
More than 16,000 people die from liver disease every year in the UK
Young regular drinkers and middle-class women particularly at risk
Royal College of Physicians say current guidelines must be rewritten
By Daniel Martin
Drinkers should have three alcohol-free days a week if they want to avoid the risk of liver disease, warn Britain’s most eminent doctors.
Current official guidance on healthy drinking limits is ‘extremely dangerous’ and must be rewritten – because it implies that drinking every day is fine, the Royal College of Physicians said.
Government advice states men should drink no more than four units a day and women no more than three.
New guidelines: Leading doctors now say drinkers should have at least three alcohol-free days a week
But this must also address the risks of daily drinking, doctors insisted.
They told MPs the risk of liver disease, alcohol dependence and serious illness increases if people drink every day rather than taking time off.
More...Stop the booze bombardment: Young people 'want protecting from alcohol advertising'
What TWO glasses of wine a day can do to your face in ten years
Hold the fries! Men who eat junk food are more likely to be infertile
They also urged Ministers to consider imposing stricter guidelines on pensioners – perhaps as little as seven units a week for older women and 11 for older men.
One unit is the equivalent of one small glass of wine (125ml) or half a pint of lager.
Limits: Government advice states men should drink no more than four units per day and women no more than three
Older people’s bodies are more affected by regular drinking, which puts them at risk of dementia, depression and falls, they said.
Yet pensioners are currently given the same guidelines as all adults.
In their submission to MPs on the Commons science and technology committee, the doctors said: ‘Government guidelines should recognise that hazardous drinking has two components: frequency of drinking and amount of drinking.
‘To ignore either of these components is scientifically unjustified.
‘A simple addition would remedy this – namely a recommendation that to remain within safe limits people have three alcohol-free days a week.’
They added: ‘The implied sanctioning of a pattern of regular daily drinking is potentially extremely dangerous.
The RCP disputes the claim that drinking every day will not accrue a significant health risk.
‘Frequency is an important risk factor for development of alcohol dependency and alcoholic liver disease.’
More than 16,000 people die from liver disease, usually caused by excessive drinking, every year in the UK.
It is Britain’s fifth biggest killer and the only major cause of death increasing year-on-year. Twice as many people die of it now than in 1991 and rates have soared by 13 per cent since 2005.
The British Liver Trust says liver disease is the biggest cause of premature death for women, and the second only to heart attacks for men.
The first drinking guidelines in 1987 – which were written by the RCP – stated that men should drink no more than 21 units a week and women no more than 14.
On top of this, everyone should take two or three days off a week. Doctors are angry that reforms to the advice in 1995 dropped this reference to alcohol-free days.
‘This in effect appeared to sanction daily or near-daily drinking, one of the key risk factors for alcohol-related harm and dependency,’ they said.
‘If the daily limit of four units was drunk with no drink-free days, this would be the equivalent of 28 units per week; a 30 per cent increase on the RCP’s guidelines.’
Habitual: Young regular drinkers are particularly at risk of developing liver disease later in life
The paper added: ‘Further studies have shown an increased risk of cirrhosis for those who drink daily or near-daily compared to those who drink periodically or intermittently.’
Young regular drinkers were particularly at risk, it said.
A 2009 study showed increases in UK liver deaths ‘are the result of daily or near-daily heavy drinking, not episodic or binge drinking. This regular drinking pattern is discernable at an early age’, the paper said.
Government experts expect the cost of treating people with liver disease will soar by 50 per cent in four years to more than £2billion.
Middle-class women are particularly at risk of daily drinking as they often have a glass or two of wine after work, followed by more at the weekend.
Lower limits should be considered for older people, as even modest levels of alcohol consumption can have a more profound effect on their bodies ‘due to physiological changes associated with ageing’, the paper said.
‘There is concern current guidelines are not appropriate for older people,’ it added.
Sir Ian Gilmore, RCP special adviser on alcohol, said: ‘We recommend a safe limit of 0-21 units a week for men and 0-14 units a week for women provided the total amount is not drunk in one or two bouts and that there are two to three alcohol-free days a week.
‘At these levels, most individuals are unlikely to come to harm.’
In June, a Royal College of Psychiatrists report called for a limit of 11 units a week for men aged over 65 and seven for women of this age.
The RCP quoted these suggested limits but did not explicitly endorse them.
Read more: http://www.dailymail.co.uk/news/article-2052070/Alcohol-abuse-Dont-drink-3-days-week-avoid-liver-disease.html#ixzz1bVrk6v8M
11 October 2011
Dr.Lesley KIRKPATRICK: CHOROIDAL MELANOMA
I'm only alive because I know how to beat the NHS system: A deeply worrying confession from a GP fighting cancer
By Dr Lesley Kirkpatrick (UK:DAILY MAIL)
When I was diagnosed with cancer, I was devastated — but sure I’d get the best possible treatment.
After 22 years as a GP, I felt strongly that the NHS was unbeatable when it came to major illnesses like this.
But I was wrong. Instead, this wonderful institution I dedicated my life to has let me down — and I am only alive today because I begged and battled for drugs and paid for scans and treatments privately.
'I insisted on an MRI scan, but my consultant said the NHS could only afford to do one without contrast, which is less sensitive than one with contrast,' said Dr Lesley Kirkpatrick
It was September 2006 when this nightmare began.
After I had experienced blurred vision and pinpricks of blue light, tests revealed I had a rare type of eye cancer — choroidal melanoma cancer, a tumour in the blood vessel layer at the back of my eye.
The tumour itself was highly curable with radiation treatment, but because this type of cancer was carried in the blood, I knew there was a strong chance it would travel throughout the body causing more tumours, most likely in the liver. And I knew it was a particularly aggressive form.
I’d worked in the NHS all my life — and yes, I felt guilty. But being a patient made me see things differently. I felt alone, uncared for, and forced to make things happen myself How did I know? I’d had three patients with this cancer and all had died from it.
It doesn’t make a difference if you’re a doctor — the moment you are told you have cancer is just mind-blowing.
My husband Terry, who’s a consultant anaesthetist, and I were shown into the comfy room, and we just burst into hysterical laughter from the sheer stress.
My consultant broke the news: I had a one in four chance of dying from metastases, or secondary tumours, within five years. I was 50.
Two weeks after diagnosis, I began four 30-second sessions of proton beam therapy — low-dose radiation accurately focused on the tumour to melt it away.
After it was successfully treated, my local trust in Sheffield — I live in Doncaster —offered me ultrasound scans to check the cancer hadn’t spread. But I knew that these scans pick up only tumours that are 1cm or bigger, and by the time it reached that size it would be harder to treat.
'If I'd stayed on the NHS and hadn't had those scans, I'd have been months from death without knowing,' said Dr Kirkpatrick
I insisted on an MRI scan, but my consultant said the NHS could only afford to do one without contrast, which is less sensitive than one with contrast.
So, for the first time in my life, I went private. I got the results in September 2008 — they were clear. Finally I could start to live again.
But six months later, a second scan showed exactly what I’d feared: a 4mm tumour was growing on my liver.
A third scan in August, this time on the NHS, showed it had grown to 9mm.
If I’d stayed on the NHS and hadn’t had those scans, I’d have been months from death without knowing. Instead, the tumour had been picked up while it was still small enough to be removed with surgery.
However, the news got worse. The soonest the NHS could offer a date for an operation was six weeks away. An aggressive tumour could double in that time. So again I went private and paid £20,000 to have three small tumours removed from my liver.
I’d worked in the NHS all my life — and yes, I felt guilty. But being a patient made me see things differently. I felt alone, uncared for, and forced to make things happen myself.
I became acutely aware of the many patients out there who were suffering as I was, given no options. I confided in my colleagues at the surgery — they understood completely, and said they wouldn’t wait either.
In the year since I was diagnosed I’d thrown myself into researching my cancer, poring over endless journals and learning the statistics by heart.
I knew that patients live an average of 27 months after liver resection, but some could live up to ten years. I was determined to make the most of the life I had left: eight weeks after surgery, Terry and I were diving in Mauritius.
Back at home, I set out to fight this disease. I now needed vigorous scanning and treatments to get the cancer before it came back (for there was now a virtual certainty that it would).
But every onocologist I spoke to told me the NHS wouldn’t pay for such scans, and they couldn’t treat me while I was clinically free of disease.
And when it did come back, they would treat me with dacarbazine, a drug which I discovered had a response rate of under one per cent. I was basically being told to go home and die.
As predicted, in September 2010, scans revealed another liver tumour, so I had surgery on the NHS. I was very sick by now, and that month, I retired from my job at the age of 51.
Then, just three months after surgery, another tumour appeared. Soon, there were 17 of them on my liver. I’d kept up my research and got in touch with an NHS consultant, Professor Christian Ottensmeier at Southampton General Hospital. He made me feel human again, and was genuinely committed to finding a way to help me live.
He referred me to an interventional radiologist, Dr Brian Stedman, who talked to me about this amazing new treatment called SIR spheres, where they use radioactive beads to deliver radiation direct to the site of the liver tumours. It was available at only a few UK hospitals — I’d read about it, but I’d never thought I’d be suitable.
This was my last hope. So I paid £26,000 to have it at Spire Southampton Hospital. Amazingly, my PCT later agreed to refund the money for this, and for my earlier private treatment too, simply because I complained persistently.
Meanwhile, my consultant also applied for a drug called ipilimumab I’d discovered with the help of the Lance Armstrong Foundation, a charity set up by the American cyclist who famously beat cancer, which provides support and practical information to cancer patients. Ipilimumab, which is being trialled in the U.S., effectively takes the brakes off the immune system, so it can recognise the cancer and form antibodies to destroy it.
The results have been amazing. One year on, scans are now showing no growth or new lesions, so I’m hoping that ipilimumab and the SIR spheres are working.
Read more: http://www.dailymail.co.uk/health/article-2047602/Im-alive-I-know-beat-NHS-system.html#ixzz1aUAONVML
By Dr Lesley Kirkpatrick (UK:DAILY MAIL)
When I was diagnosed with cancer, I was devastated — but sure I’d get the best possible treatment.
After 22 years as a GP, I felt strongly that the NHS was unbeatable when it came to major illnesses like this.
But I was wrong. Instead, this wonderful institution I dedicated my life to has let me down — and I am only alive today because I begged and battled for drugs and paid for scans and treatments privately.
'I insisted on an MRI scan, but my consultant said the NHS could only afford to do one without contrast, which is less sensitive than one with contrast,' said Dr Lesley Kirkpatrick
It was September 2006 when this nightmare began.
After I had experienced blurred vision and pinpricks of blue light, tests revealed I had a rare type of eye cancer — choroidal melanoma cancer, a tumour in the blood vessel layer at the back of my eye.
The tumour itself was highly curable with radiation treatment, but because this type of cancer was carried in the blood, I knew there was a strong chance it would travel throughout the body causing more tumours, most likely in the liver. And I knew it was a particularly aggressive form.
I’d worked in the NHS all my life — and yes, I felt guilty. But being a patient made me see things differently. I felt alone, uncared for, and forced to make things happen myself How did I know? I’d had three patients with this cancer and all had died from it.
It doesn’t make a difference if you’re a doctor — the moment you are told you have cancer is just mind-blowing.
My husband Terry, who’s a consultant anaesthetist, and I were shown into the comfy room, and we just burst into hysterical laughter from the sheer stress.
My consultant broke the news: I had a one in four chance of dying from metastases, or secondary tumours, within five years. I was 50.
Two weeks after diagnosis, I began four 30-second sessions of proton beam therapy — low-dose radiation accurately focused on the tumour to melt it away.
After it was successfully treated, my local trust in Sheffield — I live in Doncaster —offered me ultrasound scans to check the cancer hadn’t spread. But I knew that these scans pick up only tumours that are 1cm or bigger, and by the time it reached that size it would be harder to treat.
'If I'd stayed on the NHS and hadn't had those scans, I'd have been months from death without knowing,' said Dr Kirkpatrick
I insisted on an MRI scan, but my consultant said the NHS could only afford to do one without contrast, which is less sensitive than one with contrast.
So, for the first time in my life, I went private. I got the results in September 2008 — they were clear. Finally I could start to live again.
But six months later, a second scan showed exactly what I’d feared: a 4mm tumour was growing on my liver.
A third scan in August, this time on the NHS, showed it had grown to 9mm.
If I’d stayed on the NHS and hadn’t had those scans, I’d have been months from death without knowing. Instead, the tumour had been picked up while it was still small enough to be removed with surgery.
However, the news got worse. The soonest the NHS could offer a date for an operation was six weeks away. An aggressive tumour could double in that time. So again I went private and paid £20,000 to have three small tumours removed from my liver.
I’d worked in the NHS all my life — and yes, I felt guilty. But being a patient made me see things differently. I felt alone, uncared for, and forced to make things happen myself.
I became acutely aware of the many patients out there who were suffering as I was, given no options. I confided in my colleagues at the surgery — they understood completely, and said they wouldn’t wait either.
In the year since I was diagnosed I’d thrown myself into researching my cancer, poring over endless journals and learning the statistics by heart.
I knew that patients live an average of 27 months after liver resection, but some could live up to ten years. I was determined to make the most of the life I had left: eight weeks after surgery, Terry and I were diving in Mauritius.
Back at home, I set out to fight this disease. I now needed vigorous scanning and treatments to get the cancer before it came back (for there was now a virtual certainty that it would).
But every onocologist I spoke to told me the NHS wouldn’t pay for such scans, and they couldn’t treat me while I was clinically free of disease.
And when it did come back, they would treat me with dacarbazine, a drug which I discovered had a response rate of under one per cent. I was basically being told to go home and die.
As predicted, in September 2010, scans revealed another liver tumour, so I had surgery on the NHS. I was very sick by now, and that month, I retired from my job at the age of 51.
Then, just three months after surgery, another tumour appeared. Soon, there were 17 of them on my liver. I’d kept up my research and got in touch with an NHS consultant, Professor Christian Ottensmeier at Southampton General Hospital. He made me feel human again, and was genuinely committed to finding a way to help me live.
He referred me to an interventional radiologist, Dr Brian Stedman, who talked to me about this amazing new treatment called SIR spheres, where they use radioactive beads to deliver radiation direct to the site of the liver tumours. It was available at only a few UK hospitals — I’d read about it, but I’d never thought I’d be suitable.
This was my last hope. So I paid £26,000 to have it at Spire Southampton Hospital. Amazingly, my PCT later agreed to refund the money for this, and for my earlier private treatment too, simply because I complained persistently.
Meanwhile, my consultant also applied for a drug called ipilimumab I’d discovered with the help of the Lance Armstrong Foundation, a charity set up by the American cyclist who famously beat cancer, which provides support and practical information to cancer patients. Ipilimumab, which is being trialled in the U.S., effectively takes the brakes off the immune system, so it can recognise the cancer and form antibodies to destroy it.
The results have been amazing. One year on, scans are now showing no growth or new lesions, so I’m hoping that ipilimumab and the SIR spheres are working.
Read more: http://www.dailymail.co.uk/health/article-2047602/Im-alive-I-know-beat-NHS-system.html#ixzz1aUAONVML
OBIT: Prof.R.A.A.BUCKMAN MA (Cantab.) MB BChir(Cantab.) PhD(London) FRCP FRCPC
Death Oct.10 of Prof.Robert Alexander Amiel BUCKMAN MB BChir(Cantab.) FRCP FRCPC (1948-2011)
Some info.fromToronto STAR.
Actor, Atheist, Author, Medical radio, television journalist and Oncologist Prof R.A.A. Buckman died on a flight from UK to Toronto from DERMATOMYOSITIS.which developed at 31y (1979).
Attended private London (Hampstead) University College School and Cambridge.Univ. Postgraduate training at Royal Marsden (Cancer) Hospital.
Emigrated to Ontario in 1988 (37y).Worked at Princess Margaret Cancer Hospital.
Was Pres. Can .Humanist (Atheist) association. Also Hon.Phys. Toronto St.George's Soc.
Married to University Toronto Pathologist Dr.Patricia SHAW MD(Tor.1976) FRCPC(1985)
4 Children.
In 26y held no office in the Ontario Medical association or College of Physicians & Surgeons of Ontario.
Some info.fromToronto STAR.
Actor, Atheist, Author, Medical radio, television journalist and Oncologist Prof R.A.A. Buckman died on a flight from UK to Toronto from DERMATOMYOSITIS.which developed at 31y (1979).
Attended private London (Hampstead) University College School and Cambridge.Univ. Postgraduate training at Royal Marsden (Cancer) Hospital.
Emigrated to Ontario in 1988 (37y).Worked at Princess Margaret Cancer Hospital.
Was Pres. Can .Humanist (Atheist) association. Also Hon.Phys. Toronto St.George's Soc.
Married to University Toronto Pathologist Dr.Patricia SHAW MD(Tor.1976) FRCPC(1985)
4 Children.
In 26y held no office in the Ontario Medical association or College of Physicians & Surgeons of Ontario.
09 October 2011
UK: DAILY EXPRESS: 1000 new "medical examiners" to check Death certificates.
£170 TAX ON THE BEREAVED
A new scheme would see the bereaved spending £170 to bury loved ones
Monday October 10,2011
By Sarah Westcott
GRIEVING families face a new “death tax” before they can put their loved ones to rest, it emerged yesterday.
A new scheme would see the bereaved spending £170 to bury their nearest and dearest in a move that would cost Britons more than £83million a year.
The rules could be applied to around 490,000 deaths every year, affecting more than 1,000 families a day.
The Government proposals for debate in the Commons this week would hit families with a minimum charge to check the cause of death when a relative passes away.
The plan, to improve the quality and accuracy of death statistics and medical certificates of all non-coroner referred deaths, would see relatives having to pay out the sum before they can bury their loved ones.
Some 1,000 “medical examiners” would be appointed on a salary of up to £81,500 a year, to ensure that doctors fill in forms properly with the correct cause of death.
A new scheme would see the bereaved spending £170 to bury loved ones
Monday October 10,2011
By Sarah Westcott
GRIEVING families face a new “death tax” before they can put their loved ones to rest, it emerged yesterday.
A new scheme would see the bereaved spending £170 to bury their nearest and dearest in a move that would cost Britons more than £83million a year.
The rules could be applied to around 490,000 deaths every year, affecting more than 1,000 families a day.
The Government proposals for debate in the Commons this week would hit families with a minimum charge to check the cause of death when a relative passes away.
The plan, to improve the quality and accuracy of death statistics and medical certificates of all non-coroner referred deaths, would see relatives having to pay out the sum before they can bury their loved ones.
Some 1,000 “medical examiners” would be appointed on a salary of up to £81,500 a year, to ensure that doctors fill in forms properly with the correct cause of death.
07 October 2011
USA CAP: PSA POLICY
PSA Testing In The Early Detection, Diagnosis and Monitoring
of Prostate Cancer
Ported March 19, 2010 COLLEGE of AMERICAN PATHOLOGISTS
Policy Synopsis
Application of Prostate-specific antigen (PSA) as a screening test is controversial because its sensitivity and specificity for cancer are poor, and because in some cases of slow growing prostate cancer early detection and treatment may have little benefit. It is, however, reasonable to offer PSA screening to most men aged 50 and older, and at an earlier age for African-American men and men with one or more first degree relatives with prostate cancer.
PSA testing is useful in diagnosing patients who present with prostatic symptoms and in the investigation of a nodule detected by digital rectal examination. It is also useful as a monitoring tool for detecting recurrence or recognizing metastasis in a patient with prostate cancer. For monitoring and serial screening purposes, the same PSA assay method should be used for each measurement.
Policy
Prostate-specific antigen (PSA) is a protein found in serum that is derived almost entirely from prostatic glandular tissue. PSA measurement is used as a monitoring test to detect local recurrence or metastasis in patients with established prostate cancer (adenocarcinoma). PSA is also used to investigate patients who present with prostatic symptoms and signs and also for asymptomatic patients being screened for prostatic cancer.
Screening
The American Cancer Society, the American Urological Association, and the National Comprehensive Cancer Network have issued detailed advice regarding use of PSA for screening. The CAP is in general agreement with their information but does not endorse any specific screening policy. Application of PSA as a screening test is controversial for two reasons:
1) PSA levels are increased in prostate cancer, prostatitis and benign enlargement of the prostate; therefore sensitivity and specificity for cancer are poor. Some aggressive tumors elevate PSA only slightly, particularly in young African-American men. Cancer detection may be improved to some extent by using age-adjusted cutoffs, PSA “density”, PSA ”velocity”, and fraction of free or complexed PSA. *
2) Some prostate cancers are so indolent that early detection and treatment may have little benefit and potential for significant morbidity. At present, these cancers cannot be clearly distinguished from cancers that are more aggressive.
It is reasonable to offer PSA screening to men of age about 50 or older, and at an earlier age for African-American men and men with one or more first degree relatives with prostate cancer.
For a man in poor health with serious medical illness and/or a man who is unlikely to live for more than 10 years, there may be no benefit to the early detection of prostate cancer. PSA testing may actually do more harm than good since prostate cancer investigation and treatment can seriously affect one's quality of life.
Men who are being offered PSA screening should be informed about the limitations of PSA testing and the consequences of an abnormal result.
PSA testing should be performed by accredited laboratories applying rigorous quality control, because small analytic changes can cause inappropriate patient care decisions.
Different PSA assay methods can yield different results. Accordingly, for monitoring and serial screening purposes, it is important to use the same PSA assay method for each measurement, and preferably in the same laboratory.
Efforts to improve the agreement of commercial PSA tests should continue.
Diagnosis
PSA is a useful test in patients presenting with prostatic symptoms and in the investigation of a nodule detected by digital rectal examination. Elevated PSA measurements or rising PSA values in a patient with suspected prostate cancer may be followed up with a prostate biopsy. Evaluation of prostate tissue by a qualified pathologist is required for the diagnosis of prostate cancer.
Monitoring
PSA is a clearly useful test for detecting recurrence or recognizing metastasis in a patient with prostate cancer. The test should be performed periodically in patients who have received any type of treatment for prostate cancer including those on watchful waiting protocols. It is important that the laboratory measurements be made with assays, which have adequate sensitivity, to monitor patients who have had their prostate glands surgically removed and that clinicians preferably utilize the same laboratory for serial measurements. The time interval over which the concentration of PSA doubles in these men is an important indicator of progression of prostate cancer.
* Definitions:
PSA “density” is determined by dividing the PSA level by the volume of the prostate gland as determined by transrectal ultrasound - the higher the PSA density, the greater the likelihood of cancer.
PSA “velocity” is the increase in PSA level occurring over a period of time. The measurement of PSA velocity should be made on three specimens taken over at least an 18-month period. A PSA velocity over 0.75 ng/mL per year is considered high.
Free PSA indicates how much PSA circulates alone or unbound in the blood where as complexed PSA indicates how much PSA is bound together with other blood proteins. For PSA results between 4 and 10, a low percent free PSA means that a prostate cancer is more likely to be present.
Revision History
Adopted March 2004
Revised February 2010
of Prostate Cancer
Ported March 19, 2010 COLLEGE of AMERICAN PATHOLOGISTS
Policy Synopsis
Application of Prostate-specific antigen (PSA) as a screening test is controversial because its sensitivity and specificity for cancer are poor, and because in some cases of slow growing prostate cancer early detection and treatment may have little benefit. It is, however, reasonable to offer PSA screening to most men aged 50 and older, and at an earlier age for African-American men and men with one or more first degree relatives with prostate cancer.
PSA testing is useful in diagnosing patients who present with prostatic symptoms and in the investigation of a nodule detected by digital rectal examination. It is also useful as a monitoring tool for detecting recurrence or recognizing metastasis in a patient with prostate cancer. For monitoring and serial screening purposes, the same PSA assay method should be used for each measurement.
Policy
Prostate-specific antigen (PSA) is a protein found in serum that is derived almost entirely from prostatic glandular tissue. PSA measurement is used as a monitoring test to detect local recurrence or metastasis in patients with established prostate cancer (adenocarcinoma). PSA is also used to investigate patients who present with prostatic symptoms and signs and also for asymptomatic patients being screened for prostatic cancer.
Screening
The American Cancer Society, the American Urological Association, and the National Comprehensive Cancer Network have issued detailed advice regarding use of PSA for screening. The CAP is in general agreement with their information but does not endorse any specific screening policy. Application of PSA as a screening test is controversial for two reasons:
1) PSA levels are increased in prostate cancer, prostatitis and benign enlargement of the prostate; therefore sensitivity and specificity for cancer are poor. Some aggressive tumors elevate PSA only slightly, particularly in young African-American men. Cancer detection may be improved to some extent by using age-adjusted cutoffs, PSA “density”, PSA ”velocity”, and fraction of free or complexed PSA. *
2) Some prostate cancers are so indolent that early detection and treatment may have little benefit and potential for significant morbidity. At present, these cancers cannot be clearly distinguished from cancers that are more aggressive.
It is reasonable to offer PSA screening to men of age about 50 or older, and at an earlier age for African-American men and men with one or more first degree relatives with prostate cancer.
For a man in poor health with serious medical illness and/or a man who is unlikely to live for more than 10 years, there may be no benefit to the early detection of prostate cancer. PSA testing may actually do more harm than good since prostate cancer investigation and treatment can seriously affect one's quality of life.
Men who are being offered PSA screening should be informed about the limitations of PSA testing and the consequences of an abnormal result.
PSA testing should be performed by accredited laboratories applying rigorous quality control, because small analytic changes can cause inappropriate patient care decisions.
Different PSA assay methods can yield different results. Accordingly, for monitoring and serial screening purposes, it is important to use the same PSA assay method for each measurement, and preferably in the same laboratory.
Efforts to improve the agreement of commercial PSA tests should continue.
Diagnosis
PSA is a useful test in patients presenting with prostatic symptoms and in the investigation of a nodule detected by digital rectal examination. Elevated PSA measurements or rising PSA values in a patient with suspected prostate cancer may be followed up with a prostate biopsy. Evaluation of prostate tissue by a qualified pathologist is required for the diagnosis of prostate cancer.
Monitoring
PSA is a clearly useful test for detecting recurrence or recognizing metastasis in a patient with prostate cancer. The test should be performed periodically in patients who have received any type of treatment for prostate cancer including those on watchful waiting protocols. It is important that the laboratory measurements be made with assays, which have adequate sensitivity, to monitor patients who have had their prostate glands surgically removed and that clinicians preferably utilize the same laboratory for serial measurements. The time interval over which the concentration of PSA doubles in these men is an important indicator of progression of prostate cancer.
* Definitions:
PSA “density” is determined by dividing the PSA level by the volume of the prostate gland as determined by transrectal ultrasound - the higher the PSA density, the greater the likelihood of cancer.
PSA “velocity” is the increase in PSA level occurring over a period of time. The measurement of PSA velocity should be made on three specimens taken over at least an 18-month period. A PSA velocity over 0.75 ng/mL per year is considered high.
Free PSA indicates how much PSA circulates alone or unbound in the blood where as complexed PSA indicates how much PSA is bound together with other blood proteins. For PSA results between 4 and 10, a low percent free PSA means that a prostate cancer is more likely to be present.
Revision History
Adopted March 2004
Revised February 2010
ONTARIO PROVINCIAL ELECTION: two LIBERAL MDs re-elected.
LIBERALS win with gains to RIGHT Progressive Conservatives & LEFT New Democratic Party Only 48% voted. (Confusion about difference between Liberals & PCs.)
Re-elected Minister of Citizenship & Immigration (51y) Central Toronto ERIC HOSKINS Officer Order Canada, BSc(Chem).McMaster 82, MD(McMaster 85) OXFORD RHODES SCHOLARSHIP Public Health & Epid. D.Phil, DTM&H, FRCP(Can.) International Child disease activist.
(Re-elected Min. Health is Dr.(PhD Sociology) "Deb." MATTHEWS (57y) of London,Ont.)
Re-elected Chmn Social Policy Committee MUHAMMAD SHAFIQ QAADRI (46y) Toronto UPPER CANADA COLLEGE (Boys' boarding school) 1983 U.Toronto MD (1988) Shares GP office in West Toronto with Gynaecologist Mother.
Re-elected Minister of Citizenship & Immigration (51y) Central Toronto ERIC HOSKINS Officer Order Canada, BSc(Chem).McMaster 82, MD(McMaster 85) OXFORD RHODES SCHOLARSHIP Public Health & Epid. D.Phil, DTM&H, FRCP(Can.) International Child disease activist.
(Re-elected Min. Health is Dr.(PhD Sociology) "Deb." MATTHEWS (57y) of London,Ont.)
Re-elected Chmn Social Policy Committee MUHAMMAD SHAFIQ QAADRI (46y) Toronto UPPER CANADA COLLEGE (Boys' boarding school) 1983 U.Toronto MD (1988) Shares GP office in West Toronto with Gynaecologist Mother.
04 October 2011
Nobel Prize winner Late Henry Kunkel Prof.R.M.STEINMAN BSc(McGill) MD (Harvard 68)
Ralph M. Steinman
http://lab.rockefeller.edu/steinman/dendritic_intro/
Born: 1943, Montreal, Canada
Died: 30 September 2011 (Cancer pancreas)
Affiliation at the time of the award: Rockefeller University, New York, NY, USA
Prize motivation: "for his discovery of the dendritic cell and its role in adaptive immunity"
(Never received recognition from Canadian Government and Quebec)
http://lab.rockefeller.edu/steinman/dendritic_intro/
Born: 1943, Montreal, Canada
Died: 30 September 2011 (Cancer pancreas)
Affiliation at the time of the award: Rockefeller University, New York, NY, USA
Prize motivation: "for his discovery of the dendritic cell and its role in adaptive immunity"
(Never received recognition from Canadian Government and Quebec)
UK DAILY MAIL: ENGLISH TEST FOR FOREIGN DOCTORS
Language test for all foreign doctors: Law will bar medics who can't speak English
By Daniel Martin
Foreign doctors will be barred from treating patients unless they have a good grasp of English under tough rules to be announced by Andrew Lansley today.
The Health Secretary will pledge to end the scandal which has seen 23,000 doctors from Europe registered to work in the NHS – despite never having been asked if they can speak the language properly.
A new law will give trusts the statutory duty to check the English language skills of all new overseas doctors before they are employed by the Health Service.
Failure to pass the language test will see them prevented from taking a job in an NHS hospital or a GP surgery – ensuring patients are treated by doctors they can understand, and who can understand them.
Last year, a report by the Commons Health Select Committee concluded that the failure to ensure GPs on out-of-hours shifts can speak English had cost lives.
Three years ago, pensioner David Gray died after being treated by out-of-hours locum Dr Daniel Ubani, who was exhausted after having flown in from Germany. He was allowed to treat patients despite having a poor grasp of English.
Doctors’ language skills are not yet routinely tested because Britain sticks rigidly to an EU directive which outlaws checks on overseas GPs’ language skills – while France flouts it.
More...'Sometimes doctors do things that patients don't think necessary': What GP 'told disabled patient as he indecently assaulted her'
15,000 NHS nurses fear redundancy as they reveal cuts are damaging patient care
The ban is even enshrined in British law: The 1983 Medical Act, brought in by Margaret Thatcher. Mr Lansley will repeal the parts of the Act which stop trusts from testing foreign doctors’ English.
Under the new scheme, all trusts will have to appoint a ‘responsible officer’ whose job will be to test the language skills of all foreign doctors applying to work there.
He or she must also ensure the applicant is trained to UK standards and understands how the NHS works.
Minister: Andrew Lansley is set to introduce new rules for foreign doctors
Ministers are confident the new rules will be drawn up in such a way that Britain will be able to circumvent the EU directive – and protect the safety of patients.
Mr Lansley said: ‘There is considerable anxiety amongst the public about the ability of doctors to speak English properly.
‘After 13 years of inaction from Labour to tighten up language controls, we will amend the legislation to prevent all foreign doctors with a poor grasp of English from working in England. If you can’t speak adequate English, you can’t treat patients.’
Currently only doctors from outside Europe are routinely scrutinised for their language skills before being able to register with the General Medical Council, the doctors’ watchdog.
But European law prevents the GMC from vetting the language skills of doctors from within Europe, because it conflicts with the European ideal of the free movement of people.
It has led to the farcical position where doctors from English-speaking countries such as Australia and Canada face tougher language tests than those from Italy and Lithuania.
Ministers plan to sidestep the directive by putting the onus on trusts – and not the GMC – to check language skills.
The ‘responsible officers’ will also have to ensure that the doctor has the right qualifications to work in the NHS – and that appropriate references are obtained and checked.
Consultation: Rigorous new tests will ensure that GPs can speak sufficient English (picture posed by models)
There will also be a new power for trusts to refer a doctor to the GMC if they have concerns that their poor language skills could put patients at risk.
Mr Lansley plans to legislate to give the GMC explicit new powers to take action against doctors when there are concerns about their ability to speak English.
In his speech, the Health Secretary will say: ‘We will amend the Medical Act to ensure that any doctor from overseas who can’t use a decent level of English is not able to treat NHS patients.
‘This is not about discriminating: We’ve always appreciated how much overseas doctors and nurses give to our NHS.
‘It is simply about our absolute commitment to put patients’ safety first.’
Currently 23,033 doctors from Europe – almost 10 per cent of the total – are registered to work in the NHS.
France has managed to get round the rules by not testing doctors’ language per se, but inviting applicants to interview. Those deemed not to have the requisite language skills will not get a job.
The Department of Health said it was in talks with the Nursing and Midwifery Council to consider testing the language skills of foreign nurses as well.
Read more: http://www.dailymail.co.uk/news/article-2044925/Language-test-foreign-doctors-Law-bar-medics-speak-English.html#ixzz1ZoiWpYQe
By Daniel Martin
Foreign doctors will be barred from treating patients unless they have a good grasp of English under tough rules to be announced by Andrew Lansley today.
The Health Secretary will pledge to end the scandal which has seen 23,000 doctors from Europe registered to work in the NHS – despite never having been asked if they can speak the language properly.
A new law will give trusts the statutory duty to check the English language skills of all new overseas doctors before they are employed by the Health Service.
Failure to pass the language test will see them prevented from taking a job in an NHS hospital or a GP surgery – ensuring patients are treated by doctors they can understand, and who can understand them.
Last year, a report by the Commons Health Select Committee concluded that the failure to ensure GPs on out-of-hours shifts can speak English had cost lives.
Three years ago, pensioner David Gray died after being treated by out-of-hours locum Dr Daniel Ubani, who was exhausted after having flown in from Germany. He was allowed to treat patients despite having a poor grasp of English.
Doctors’ language skills are not yet routinely tested because Britain sticks rigidly to an EU directive which outlaws checks on overseas GPs’ language skills – while France flouts it.
More...'Sometimes doctors do things that patients don't think necessary': What GP 'told disabled patient as he indecently assaulted her'
15,000 NHS nurses fear redundancy as they reveal cuts are damaging patient care
The ban is even enshrined in British law: The 1983 Medical Act, brought in by Margaret Thatcher. Mr Lansley will repeal the parts of the Act which stop trusts from testing foreign doctors’ English.
Under the new scheme, all trusts will have to appoint a ‘responsible officer’ whose job will be to test the language skills of all foreign doctors applying to work there.
He or she must also ensure the applicant is trained to UK standards and understands how the NHS works.
Minister: Andrew Lansley is set to introduce new rules for foreign doctors
Ministers are confident the new rules will be drawn up in such a way that Britain will be able to circumvent the EU directive – and protect the safety of patients.
Mr Lansley said: ‘There is considerable anxiety amongst the public about the ability of doctors to speak English properly.
‘After 13 years of inaction from Labour to tighten up language controls, we will amend the legislation to prevent all foreign doctors with a poor grasp of English from working in England. If you can’t speak adequate English, you can’t treat patients.’
Currently only doctors from outside Europe are routinely scrutinised for their language skills before being able to register with the General Medical Council, the doctors’ watchdog.
But European law prevents the GMC from vetting the language skills of doctors from within Europe, because it conflicts with the European ideal of the free movement of people.
It has led to the farcical position where doctors from English-speaking countries such as Australia and Canada face tougher language tests than those from Italy and Lithuania.
Ministers plan to sidestep the directive by putting the onus on trusts – and not the GMC – to check language skills.
The ‘responsible officers’ will also have to ensure that the doctor has the right qualifications to work in the NHS – and that appropriate references are obtained and checked.
Consultation: Rigorous new tests will ensure that GPs can speak sufficient English (picture posed by models)
There will also be a new power for trusts to refer a doctor to the GMC if they have concerns that their poor language skills could put patients at risk.
Mr Lansley plans to legislate to give the GMC explicit new powers to take action against doctors when there are concerns about their ability to speak English.
In his speech, the Health Secretary will say: ‘We will amend the Medical Act to ensure that any doctor from overseas who can’t use a decent level of English is not able to treat NHS patients.
‘This is not about discriminating: We’ve always appreciated how much overseas doctors and nurses give to our NHS.
‘It is simply about our absolute commitment to put patients’ safety first.’
Currently 23,033 doctors from Europe – almost 10 per cent of the total – are registered to work in the NHS.
France has managed to get round the rules by not testing doctors’ language per se, but inviting applicants to interview. Those deemed not to have the requisite language skills will not get a job.
The Department of Health said it was in talks with the Nursing and Midwifery Council to consider testing the language skills of foreign nurses as well.
Read more: http://www.dailymail.co.uk/news/article-2044925/Language-test-foreign-doctors-Law-bar-medics-speak-English.html#ixzz1ZoiWpYQe
02 October 2011
HUMAN MOLECULAR GENETICS: Genetic basis of schizophrenia & bipolar disorder.
From NEW SCIENTIST
Human Molecular Genetics
hmg.oxfordjournals.org
September 9, 2011
Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder
Emma L. Dempster1,†, Ruth Pidsley1,†, Leonard C. Schalkwyk1, Sheena Owens2, Anna Georgiades2, Fergus Kane2, Sridevi Kalidindi2, Marco Picchioni2,3, Eugenia Kravariti2, Timothea Toulopoulou2, Robin M. Murray2 and Jonathan Mill1,*
+ Author Affiliations
1MRC Social, Genetic and Developmental Psychiatry Centre and
2Department of Psychosis Studies, Institute of Psychiatry, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK and
3St Andrew's Academic Centre, Northampton NN1 5BG, UK
↵*To whom correspondence should be addressed at: SGDP Centre, Institute of Psychiatry, King's College London, Denmark Hill, London SE5 8AF, UK. Tel: +44 2078480859; Fax: +44 2078480866; Email: jonathan.mill@kcl.ac.uk
↵† These authors contributed equally to this work.
Received July 12, 2011.
Accepted September 7, 2011.
Abstract
Studies of the major psychoses, schizophrenia (SZ) and bipolar disorder (BD), have traditionally focused on genetic and environmental risk factors, although more recent work has highlighted an additional role for epigenetic processes in mediating susceptibility. Since monozygotic (MZ) twins share a common DNA sequence, their study represents an ideal design for investigating the contribution of epigenetic factors to disease etiology. We performed a genome-wide analysis of DNA methylation on peripheral blood DNA samples obtained from a unique sample of MZ twin pairs discordant for major psychosis. Numerous loci demonstrated disease-associated DNA methylation differences between twins discordant for SZ and BD individually, and together as a combined major psychosis group. Pathway analysis of our top loci highlighted a significant enrichment of epigenetic changes in biological networks and pathways directly relevant to psychiatric disorder and neurodevelopment. The top psychosis-associated, differentially methylated region, significantly hypomethylated in affected twins, was located in the promoter of ST6GALNAC1 overlapping a previously reported rare genomic duplication observed in SZ. The mean DNA methylation difference at this locus was 6%, but there was considerable heterogeneity between families, with some twin pairs showing a 20% difference in methylation. We subsequently assessed this region in an independent sample of postmortem brain tissue from affected individuals and controls, finding marked hypomethylation (>25%) in a subset of psychosis patients. Overall, our data provide further evidence to support a role for DNA methylation differences in mediating phenotypic differences between MZ twins and in the etiology of both SZ and BD.
© The Author 2011. Published by Oxford University Press.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Human Molecular Genetics
hmg.oxfordjournals.org
September 9, 2011
Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder
Emma L. Dempster1,†, Ruth Pidsley1,†, Leonard C. Schalkwyk1, Sheena Owens2, Anna Georgiades2, Fergus Kane2, Sridevi Kalidindi2, Marco Picchioni2,3, Eugenia Kravariti2, Timothea Toulopoulou2, Robin M. Murray2 and Jonathan Mill1,*
+ Author Affiliations
1MRC Social, Genetic and Developmental Psychiatry Centre and
2Department of Psychosis Studies, Institute of Psychiatry, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK and
3St Andrew's Academic Centre, Northampton NN1 5BG, UK
↵*To whom correspondence should be addressed at: SGDP Centre, Institute of Psychiatry, King's College London, Denmark Hill, London SE5 8AF, UK. Tel: +44 2078480859; Fax: +44 2078480866; Email: jonathan.mill@kcl.ac.uk
↵† These authors contributed equally to this work.
Received July 12, 2011.
Accepted September 7, 2011.
Abstract
Studies of the major psychoses, schizophrenia (SZ) and bipolar disorder (BD), have traditionally focused on genetic and environmental risk factors, although more recent work has highlighted an additional role for epigenetic processes in mediating susceptibility. Since monozygotic (MZ) twins share a common DNA sequence, their study represents an ideal design for investigating the contribution of epigenetic factors to disease etiology. We performed a genome-wide analysis of DNA methylation on peripheral blood DNA samples obtained from a unique sample of MZ twin pairs discordant for major psychosis. Numerous loci demonstrated disease-associated DNA methylation differences between twins discordant for SZ and BD individually, and together as a combined major psychosis group. Pathway analysis of our top loci highlighted a significant enrichment of epigenetic changes in biological networks and pathways directly relevant to psychiatric disorder and neurodevelopment. The top psychosis-associated, differentially methylated region, significantly hypomethylated in affected twins, was located in the promoter of ST6GALNAC1 overlapping a previously reported rare genomic duplication observed in SZ. The mean DNA methylation difference at this locus was 6%, but there was considerable heterogeneity between families, with some twin pairs showing a 20% difference in methylation. We subsequently assessed this region in an independent sample of postmortem brain tissue from affected individuals and controls, finding marked hypomethylation (>25%) in a subset of psychosis patients. Overall, our data provide further evidence to support a role for DNA methylation differences in mediating phenotypic differences between MZ twins and in the etiology of both SZ and BD.
© The Author 2011. Published by Oxford University Press.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
01 October 2011
U.British Columbia Emeritus Prof Psychology Robert D.HARE CM PhD on PSYCHOPATHS
Original idea of post from READER'S DIGEST article
readersdigest.ca/september
http://www.hare.org/
HARE Psychopathy Checklist revised (PCL-R)
Prof Hare estimates a 1% psychopathy prevalence` rate: a problem for Clinicians.
readersdigest.ca/september
http://www.hare.org/
HARE Psychopathy Checklist revised (PCL-R)
Prof Hare estimates a 1% psychopathy prevalence` rate: a problem for Clinicians.
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