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Tuesday, April 5, 2011

7 unsolved MEDICAL MYSTERIES


Seven unsolved medical mysteries

This got me thinking about ailments that have perplexed the medical profession. Here is a selection of the most unusual.

Water allergy

This may sound impossible - considering that our bodies are around 60% water - but some rare individuals are allergic to water.
They can still drink the stuff, of course. It's washing that causes the problem. A few minutes in the bath or shower causes their skin to erupt in itchy red weals.
This rare condition (known, medically as aquagenic urticaria), was first described in 1964.
Its cause is still a mystery: it could be due to a toxic response when water touches the skin, or to an extreme sensitivity to ions in the water.

Chimeric people

Imagine going for genetic tests along with your children, only to find that you can't possibly be their biological mother - despite the fact that you gave birth to them.
This isn't science fiction. It has actually happened to a few people around the world (see The stranger within).
In the case, it turned out that the mother was a chimera (a mix of two individuals). She was the composite of two non-identical twins that had fused in her mother's womb.
No-one knows how common chimeras are, but with the rise of fertility treatments and genetic testing, more chimeras are likely to be created and discovered.

Foreign accent syndrome

If you wake up talking with a strong Jamaican accent, despite the fact that you've never even heard a Jamaican accent before, then the chances are you're suffering from foreign accent syndrome.
The best known case of this syndrome dates from 1941, when a Norwegian woman was ostracised after she was injured during an air raid and began talking with a strong German accent.
This syndrome was once regarded as a psychological disorder, but it's now thought to be a neurological one, which comes about when a stroke or injury damages the part of the brain associated with speech.
The real mystery is how people talk with an accent they've never been exposed to - though recently scientists have come up with a possible explanation. The "foreign-ness" of a sufferer's accent might simply be due to the listener struggling to interpret the change in the sufferer's speech patterns.

Morgellons disease

The symptoms: fibres growing out of itchy lesions, accompanied by a biting, crawling sensation, as if the sufferer is being attacked by a parasite.
Thousands of people around the world report these unpleasant symptoms and claim that they're suffering from Morgellons disease - a physical ailment whose cause is, as yet, unknown.
But present these symptoms to most doctors, and they'll tell you you're suffering from a well-known psychological disorder called delusional parasitosis - an unshakeable belief that sensations of crawling on or under the skin are caused by parasites, despite incontrovertible evidence to the contrary.
Who is right? The jury is still out, but some medics are beginning to take a serious look at Morgellons. One suggestion is that the fibres could be the result of an infection by the bacterium Agrobacterium, most commonly found to cause tumours in plants.

The madness of King George

The British King, George III, suffered major bouts of mental derangement, for which he had to be restrained in a straitjacket or tied to a chair.
Scientists thought they knew the cause of these ravings: a genetic defect called porphyria. But in 2005 researchers examining a sample of King George's hair made a surprise discovery: high concentrations of arsenic.
The researchers believe that the medicine given to the King was contaminated with arsenic - making his predisposition to porphyria far worse.

Putrid finger

A 1996 issue of the medical journal The Lancet carried a distressing case study. A 29-year-old man had pricked his finger on a chicken bone 5 years previously, leaving him with an infection which made him smell terrible.
"The most disabling consequence of the infection was a putrid smell emanating from the affected arm, which could be detected across a large room, and when confined to a smaller examination room became almost intolerable," the paper states.
The cause of the infection couldn't be identified, and it didn't respond to antibiotics, so the paper's authors issued a plea: "We ask assistance from colleagues who may have encountered a similar case or for suggestions to relieve this patient's odour even if the organism cannot be eradicated."
So what happened to this poor man? Does he still smell putrid after all these years? I contacted the dermatologist who treated him to find out.
Peter Holt of the University Hospital of Wales reported that the patient's infection cleared up spontaneously, and he no longer smells putrid. But the cause remains a mystery.

Tree man

With hands and feet resembling branches, Dede, a man from West Java, Indonesia, appears to be half tree, half man.
But what is the cause of this deformation? Thankfully for Dede, this mystery may recently have been solved.
The culprit appears to be a rare immune deficiency, which allows the human papilloma virus - better known as the cause of warts - to rampage out of control.

MCI NEW REGULATIONS

REMEMBER THESE R JUST PROPOSALS BY MCI; NOT YET APPROVED


A pill to improve medical education

RAISING THE STANDARDS: The restructured curriculum would emphasise clinical exposure, integration of basic and clinical sciences and clinical competence. Photo: S.S. Kumar
RAISING THE STANDARDS:
The Board of Governors of the Medical Council of India has proposed major changes in the undergraduate curriculum to help nurture medical professionals with a set of competencies.
The Medical Council of India (MCI) has proposed major changes in the undergraduate curriculum and training aimed at meeting the twin demand of having more graduates and maintaining the quality of education. The Board of Governors of the MCI has recommended creation of an “Indian Medical Graduate,” who will have necessary competence to assume his or her role as a health care provider. MCI also hopes that the ‘Indian Medical Graduate' will, at the time of graduation, effectively fulfill the roles of clinician, leader, communicator and life-long learner, and be a professional with a set of competencies.
The ‘Indian Medical Graduate' will have to pass an exit exam or a licentiate examination after an internship to get licence to practice anywhere in the country.
The national-level exit exam is expected to set a standard for doctors. The MCI also proposes to introduce the National Eligibility-cum-Entrance Test from 2012. The licentiate system, if approved, would be optional between 2012 and 2016, but mandatory thereon.
The MCI has proposed to start a two-month foundation course after admission to MBBS course to prepare students to study medicine effectively.
This would help in orienting students to national health scenarios, medical ethics, health economics, learning skills and communication, life support, biohazard and environment safety.
The new curriculum has been structured to facilitate horizontal and vertical integration between disciplines and bridge the gaps between theory and practice. In the first year, focus would be on basic and laboratory sciences, while in the second and third years, focus would be on clinical exposure and learning. Clinical training would start in the first year and there would be more focus on common problems seen in outpatients and emergency settings.
Importantly, an ‘elective' subject has been added to the ‘core' subjects to allow flexible learning options in the curriculum and the options include clinical electives, laboratory postings and or community exposure in areas that students were not normally exposed to as part of the regular curriculum. The restructured curriculum would emphasise on clinical exposure, integration of basic and clinical sciences, clinical competence and skills and new teaching-learning methodologies that would lead to a new generation of graduates of global standards.
A new two-year Master of Medicine (M. Med.) programme is also proposed with focus on skill development. Degree holders will be eligible to teach undergraduate courses. There will be no competitive exam for this course and the assessment will be based on the student's performance during the course and the national exit exam.
M. Med, students would have the option of pursuing one of the five doctorate streams depending on the aptitude and professional aspirations. After M.Med., the graduates would be able to compete for Doctor of Medicine or Master of Surgery or other dual programmes .
An additional weightage of 5 per cent would be given to candidates for putting in six months of intensive rural service during the M.Med. course.
The two-year course can be pursued after finishing the MBBS course; one more year of study will lead to MD degree for candidates. A candidate would get dual degrees after four years and he or she has a choice to go on a fellowship programme or a Ph.D. programme. The MCI is also considering a proposal to shorten the MBBS course to four years from four-and-a-half years.
The Board of Governors of the Medical Council of India (MCI) has proposed major changes in the undergraduate curriculum and training programme that would create an “Indian Medical Graduate,” who will have necessary competence to assume his or her role as a healthcare provider.
The “Indian Medical Graduate” will have to pass an exit exam or a licentiate examination after an internship to get licence to practise anywhere in the country. The national-level exit exam is expected to set a standard for doctors. The MCI also proposes to introduce the National Eligibility-cum-Entrance Test from 2012.
A new two-year Master of Medicine (M. Med) programme is also proposed with focus on skill development. Degree holders will be eligible to teach undergraduate courses. There will be no competitive exam for this course and the assessment will be based on the student's performance during the course and the national exit exam.
The restructured curriculum laid emphasis on clinical exposure, integration of basic and clinical sciences, clinical competence and skills and new teaching-learning methodologies that would lead to a new generation of graduates of global standards, Dr. S.K. Sarin, Chairperson, Board of Governors of the MCI, said here on Tuesday, after a day-long national meet on “Implementation of Reforms in Undergraduate and Postgraduate Medical Education” where the proposed reforms were adopted.
The proposals will have to be approved by the Ministry of Health and Family Welfare before their implementation in 2012.
The licentiate system, if approved, would be optional between 2012 and 2016, but mandatory thereon, Dr. Sarin said. While the duration of the undergraduate course would remain five-and-half-years, a two-month Foundation Course after admission to prepare a student to study medicine effectively is proposed. This would help in orienting students to national health scenarios, medical ethics, health economics, learning skills and communication, life support, biohazard and environment safety.
The new curriculum had been structured to facilitate horizontal and vertical integration between disciplines and bridge the gaps between theory and practice. In the first year, focus would be on basic and laboratory sciences (integrated with their clinical relevance), while in the second and third years, focus would be on clinical exposure and learning. Clinical training would start in the first year and there would be more focus on common problems seen in outpatients and emergency settings.
Importantly, an ‘elective' subject had been added to the ‘core' subjects to allow flexible learning options in the curriculum and the options include clinical electives, laboratory postings and or community exposure in areas that students were not normally exposed to as part of the regular curriculum.
The post-graduate specialisation would essentially involve a research component and prepare this group of specialists to pursue the academic stream.
Dr. Sarin said that after M. Med, students would have the option of pursuing one of the five doctorate streams depending on the aptitude and professional aspirations. After M. Med, the graduates would be able to compete for Doctor of Medicine or Master of Surgery or other dual programmes (MD-PhD, MHA, MD-DM and MD-fellowships).
An additional weightage of 5 per cent would be given to candidates for putting in six months of intensive rural service during the M. Med course. The duration after finishing MBBS course would be M. Med (2 years); one more year will get candidate an MD degree. Candidate would get dual degrees after four years and he or she has a choice to go on a fellowship programme or a Ph D programme or a DM degree in five years.

 All-India MBBS entrance from next year


MCI keen on revamping medical education in the country, says Kurnool Medial College Principal
The all-India entrance to MBBS would come into force in 2012, said Bhavani Prasad, Principal of Kurnool Medical College.
Dr. Prasad, who attended a national-level conference of medical college principals sponsored by the Medical Council of India at New Delhi on March 29, said the council was keen on revamping medical education in the country by introducing a uniform syllabus and teaching methods.
Uniform syllabus
Medical colleges across the country would follow the syllabus framed by the Medical Council of India.
Also, the Medical Council of India noticed that the house surgeon training failed to produce the desired results as students were more interested in preparing for the post-graduate entrance examination during the period.
To avoid the clash, the Medical Council of India has suggested PG entrance soon after the MBBS examination and house surgeon training later.
After 2017, a final examination would be held after internship as house surgeon and the marks would be counted to the ranking for PG admissions.
To further rationalise and restructure the PG courses, the MCI has proposed introduction of a two-year master's degree course in various disciplines in place of diplomas and in case of diploma holders seeking to attend MD course, only one year additional training would be needed as the master's course would deem to be part of the MD course.
Reduction in course
The MD course would be reduced from three to two years. The rationalisation is expected to train more hands for teaching.
Also, unlike in the past, the theoretical and clinical teaching would go hand in hand. When anatomy of heart was taught, heart diseases would also be dealt with simultaneously.
Moreover, the students would be given exposure to primary health centres during the course so that they would be well-versed with the basic diseases.
Every MBBS student has to attend a two-month foundation course before starting the medical course by undergoing orientation in computers and other subjects.

·  Uniform syllabus and teaching methods to be introduced in medical colleges across country
·  MD to be reduced from three to two years, rationalisation expected to strengthen teaching




Family medicine & medical education reform
Recent events in our country have been full of sound and fury, which have disillusioned the public with their futility. But this week has the potential for promising developments in Indian medical education which, in turn, could have far-reaching beneficial consequences for health care in India. The Board of Governors of the Medical Council of India (MCI) has been continuously refining its proposals for major reforms in undergraduate medical education. These are to be discussed today with the State Directors of Medical Education and the Vice-Chancellors of universities, who together are the CEOs in this field of education.
The Board has been hard at work on these proposals for some months, with the aid of a designated Working Group for Undergraduate Medical Education. This Working Group, in turn, has been holding wide and sustained consultations with scores of expert groups, which have resulted in a general consensus that major changes are overdue and must occur expeditiously. Thus this week could be a rare, opportune and pregnant moment in the troubled history of regulation of medical education in India. The nation has a vital stake in ensuring that the emerging paradigm shift does not miss out on what medical education can and should do to overcome the inadequacies and inequities in our health care system. And to take our country to the happy consummation of quality assured and universal health care. There should not be a slip between the cup and the lip.
It is important to recognise the special potential and limitations of the present Board of Governors of the MCI, inherent in its origins. The long simmering discontent with the inefficiency and improprieties of the MCI finally erupted when, in April last year, its president was arrested on charges of corruption. The government moved quickly, in May 2011, to issue an ordinance entrusting the considerable powers of the elephantine Council to a small group of six nominated Governors. They were chosen with commendable care, both for their eminence in the profession and their reputation for integrity. In August, Parliament gave its assent to the provisions of the ordinance, but only for a one-year term ending in May 2011.
Thus, on the one hand, for the first time, a small body of reputed experts has the power and, indeed, the mandate to rectify the perceived wrongs of the MCI. They have recognised the need to move quickly on many other fronts as well such as shortage of medical manpower, quality of medical education, shortage of faculty in medical colleges, deficiencies in postgraduate training and so on. The issue of the short period of their trusteeship has now been resolved by extending their term to May 2012.
New medical graduate
Thus the MCI and the Health Ministry together are in a position to consummate this long process of gestation and produce a new Indian medical graduate. And hence the need and urgency to raise in the public domain one crucial aspect of reform of medical education which may not receive the priority it deserves. In spite of the danger of over simplification, the argument here can be stated briefly.
(1) It is generally agreed that the major challenge in health care is in ensuring sound and competent basic health care to the disadvantaged communities, both rural and urban. Indeed, it is an every day experience that even for those who can afford it, dependable and quality assured basic care is a very rare commodity.
(2) This type of care is non-specialised, has to address all common and urgent medical conditions, with limited laboratory and other facilities. It should ensure continuity of care for all members of the family, of all ages. It is mainly ambulatory. And it must include disease prevention and promotion of health, in the family and the community.
(3) Obviously this is not the kind of care that medical students are now exposed to in the so-called teaching hospitals. It is a different kind of clinical practice, usually referred to as Family Medicine (or family practice, though the former is a better term). This can be taught only through a significant exposure to secondary and primary levels of care, the lack of which is the foremost deficiency in Indian medical education today.
(4) Unless and until this component is introduced as a required part of the undergraduate course, India will never be able to solve the lack of competent, well trained, basic doctors in our primary and secondary level health clinics and hospitals. Without this, the proposed new medical graduate will not be the basic doctor who forms the backbone of a sound health care system all over the world and which India sorely needs.
The logic of this is such that a high powered “Retreat” of the Health Ministry on September 28 and 29, 2010 expressed its approval as follows: “Request the MCI to address the issue of curriculum change to make doctors more sensitive to primary health care. Subjects such as Family Medicine need to be given importance.”
But there are many difficulties in this proposal which might result in its being put aside for the present. Health issues have never been a powerful element in our political discourse. They have never been a decisive factor in the elections, unlike in Britain or the U.S. So there is no great incentive for political parties to reflect on or act decisively on the societal responsibilities of medical education.
Electorate easily pacified
In the public perception, sound medical care is equal to access to particular medical interventions and publicised advances in medical care. The electorate is more easily pacified by the offer of medical insurance of the type instituted recently in the southern States. The move suggested above requires the creation of a speciality which hardly exists now. This discipline has to work in close coordination for the State health care system whereas the MCI works at a national level.
Family Medicine is not a field of medical practice that readily attracts the private sector or professionals who make their career decisions based on socio-economic rewards. And, therefore, at this moment in the formulation of the reforms in medical education, there is a special need for all the custodians of Indian medical education, especially the Ministry of Health, to act on behalf of the public to ensure the following:
About 20 to 25 per cent of clinical training, during the “clinical” phase of MBBS, should occur outside the teaching hospitals, at the primary/secondary levels.
Since this is quite different from tertiary care, new departments of Family Medicine should be established in all medical colleges to implement the above.
Either by arrangement with the State health care system or on their own, medical colleges must have sufficient clinical services at the primary/secondary levels to implement the above two. The outlay required for these, in faculty and infrastructure, is minor compared to the prevailing requirements for medical colleges.
There is a tide in the affairs of men. This week has the possibility of a tide which, taken at the flood, could lead to better health for all of us. “Omitted, all the voyage of their life is bound in shallows and in miseries.”


Friday, April 1, 2011

AMAZIN CASES



Introduction
Also known as Hutchinson-Gilford Progeria Syndrome (HGPS). Derived from the words pro = advanced, preceding and geria = ageing, old age.

Progeria was first described in 1886 by Jonathan Hutchinson and also described independently in 1897 by Hastings Gilford.


Is a rare progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. Children with progeria, generally appear normal at birth. By 12 months, signs and symptoms, such as skin changes and hair loss, begin to appear. The average life expectancy for a child with progeria is 13, but some with the disease die younger and some live 20 years or longer.
Heart problems or stroke is the eventual cause of death in most children with progeria.

Aetiology
Researchers have discovered a single gene mutation responsible for Hutchinson-Gilford progeria syndrome. The gene is known as lamin A (LMNA), which makes a protein necessary to holding the center (nucleus) of a cell together. Researchers believe the genetic mutation renders cells unstable, which appears to lead to progeria's characteristic aging process.

Unlike many genetic mutations, Hutchinson-Gilford progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the children's genes are new (de novo).


In HGPS patients, the cell nucleus has dramatically aberrant morphology (bottom)rather than the uniform shape typically found in healthy individuals (top).

Signs & Symptoms
Usually within the first year of life, growth of a child with progeria slows markedly so that height and weight fall below average for his or her age, and weight falls low for height. Motor development and mental development remain normal.


Signs and symptoms of this progressive disorder include:
  • Slowed growth, with below-average height and weight
  • A narrowed face and beaked nose, which makes the child look old
  • Hair loss (alopecia), including eyelashes and eyebrows
  • Hardening and tightening of skin on trunk and extremities (scleroderma)
  • Loose, aged-looking skin
  • Head too large for face
  • Prominent scalp veins

  • Prominent eyes
  • Small lower jaw (micrognathia)
  • High-pitched voice
  • Delayed and abnormal tooth formation
  • Loss of body fat and muscle
  • Stiff joints
  • Hip dislocation


Treatment
There's no cure for progeria. Regular monitoring for cardiovascular disease may help with managing your child's condition. Some children undergo coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular disease.

Certain therapies may ease some of the signs and symptoms. They include:

  • Low-dose aspirin. A daily dose may help prevent heart attacks and stroke.
  • Physical and occupational therapy. These may help with joint stiffness and hip problems, and may allow your child to remain active.
  • High-calorie dietary supplements. Including extra calories in your child's daily diet may help prevent weight loss and ensure adequate nutrition.
  • Feeding tube. Infants who feed poorly may benefit from a feeding tube and a syringe. You can use the syringe to push pumped breast milk or formula through the tube to make it easier for your child to feed.
  • Extraction of primary teeth. Your child's permanent teeth may start coming in before his or her baby teeth fall out. Extraction may help prevent problems associated with the delayed loss of baby teeth, including overcrowding and developing a second row of teeth when permanent teeth come in.


Drugs known as farnesyltransferase inhibitors (FTIs), which were developed for treating cancer, have shown promise in laboratory studies in correcting the cell defects that cause progeria. FTIs are currently being studied in human clinical trials for treatment of progeria.