Anal-retentive?

This morning i saw a girl with dyskeratosis congenita-she told me in the world, 1 in a million has this. She was 15 and very dark-skinned-her background i later found out was Phillipino. She had aplastic anemia at 2 and had a bone marrow transplant at 6. Her symptoms of tiredness, dyspnea and orthopnea only became worse in the last 3 weeks although dyspnea was tolerated for the past 2 years. She was admitted on multiple occassions to the ED before for dyspnea in which one of such episodes led to the diagnosis of dyskeratosis congenita.
Emedicine:
Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Evidence exists for telomerase dysfunction, ribosome deficiency, and protein synthesis dysfunction in this disorder. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.

She told me her current status involves fibrosis of her lungs..her liver and spleen are also both affected. When i saw her, both her arms were wrapped in bandages and she mentioned she had "increased dry and flaky skin" over the past few weeks....I went to get her file and can't help feeling sick myself as I tried to imagine what it would be like to have gone through such encounter at that age myself. She spoke over her cell phone and when i came back to examine her-i noticed she was at the brink of tears-i couldn't carry out the PE further and thought best to leave her to herself. Her descriptions and words were clear and it seemed that she was calm enough to relate her story to me throughout yet a large part of me didn't know how to react. A medical student is supposed to take this scientifically and understand what exactly it is-there is no need to be affected emotionally since to put it rationally, this is one case among probably many many cases in the children's hospital worth crying over. Yet, I couldn't help but ask myself truly, what is the best way to respond to such patient if he or she is under your care? If i were her doctor, i want to save her life. Belonging to this part of the world, she's eligible for a lung transplant. Yet, is liver transplant or spleen transplant available to her if they fail too? I wonder how much we owe the progress of medicine throughout history to give people like her hope to live on.

It was uneasy for me and i went to the community centre to continue with my data entry and research write-up. It was a logical, straightforward, systematic task which one does without emotions and legitimately so by all standards of humanity i believe. Then i went to attend the CPC conference in SCH. The case was about a premature, breech delivered baby from RPA who was withdrawn ventilatory support after struggling with multiple brain and multi-organ failure problems perinatally. An autopsy was performed and the pathologist presented the slides pointing out the features technically and concluded her speculated cause for baby's conditions post-birth. Throughout, i can't help but ask myself-is this truly necessary? why are we doing this? to me at that time, everything which happened during the CPC seemed "anal retentive" or rather "extraneous". The only benefit which i thought may be important is that such cases or such traditions will contribute to future scientific progress-although in medicine, i wonder how highly i would put scientific progress given that my idea of life is not about extension but quality and personal transcendence in this world. Why not talk about prevention rather than cure? I just can't see myself being part of the "anal retentive" groups of consultants who are essentially invaluable for their competencies but surely, any person with humility will realise that they themselves don't "save lives" as such without first acknowledging the existence of system and colleagues who are part and parcel of their professional work. I don't know if i truly believe that it's worth dedicating one's life to a level of competency which essentially leads one to the narrow scientific discourse which may or may not be relevant in the long run. In addition, i still don't know if it's possible to retain one's humanity whilst performing activities which eventually require one to feel less and be more efficient or specialised. My intuition tells me that i probably wouldn't even if i could. I think to give myself better perspective, i should probably read more surrounding this: Kuhn's scientific revolutions....though my gut feeling tells me that biology as such and my concern is weakly linked to that...
I guess perhaps it's a niche issue and in understanding myself-i supposed one tries at best to cope with what is unnecessary whilst preserving the best and enthusiasm in oneself to embrace and look forward to what is most meaningful for one's life and humanity itself.

Control of Neglected Tropical Diseases (NTD)

At least 1 billion people — one sixth of the world’s population, or 1 person in 6 — suffer from one or more neglected tropical diseases (NTDs), such as Buruli ulcer, cholera, cysticercosis, dracunculiasis (guinea-worm disease), foodborne trematode infections (such as fascioliasis), hydatidosis, leishmaniasis, lymphatic filariasis, onchocerciasis, schistosomiasis, soil-transmitted helminthiasis, trachoma and trypanosomiasis, although there are other estimates that suggest the number could be much higher. Several of these diseases, and others such as dengue, are vector-borne. Often, those populations most affected are also the poorest and most vulnerable and are found mainly in tropical and subtropical areas of the world. Some diseases affect individuals throughout their lives, causing a high degree of morbidity and physical disability and, in certain cases, gross disfigurement. Others are acute infections, with transient, severe and sometimes fatal outcomes. Patients can face social stigmatization and abuse, which only adds to the already heavy health burden.

For a large group of these diseases – mainly helminthic infections – effective, inexpensive or donated drugs are available for their prevention and control. These tools, when used on a large scale, are able to wipe out the burden caused by these ancient scourges of humanity. For leprosy, treatment with effective antibiotics is leading to the elimination of such ancient disabling disease. There is also a cost-effective approach to treating yaws that could lead to elimination and final eradication of this debilitating disease that may cause gross deformation. In the case of blinding trachoma, the use of the recommended strategy (SAFE) of an effective antibiotic is enhancing the progress towards final elimination. Large-scale, regular treatment plays a central role in the control of many NTDs such as filariasis, onchocerciasis, schistosomiasis and soil-transmitted nematode infections. For example, regular chemotherapy against intestinal worms reduces mortality and morbidity in preschool children, improves the nutritional status and academic performance of schoolchildren, and improves the health and well-being of pregnant women and their babies.

There is second group of NTDs for which the only clinical option currently available is systematic case-finding and management at an early stage. These diseases include Buruli ulcer, Chagas disease, cholera and other diarrhoeal diseases, human African trypanosomiasis, and leishmaniasis. Simple diagnostic tools and safe and effective treatment regimens need to be developed urgently for some of these diseases. However, even for these infections, systematic use of the present, imperfect tools at an early stage can dramatically reduce mortality and morbidity. For others, vector control tools are available and present the main method of transmission control, as in the case of Chagas disease.

There are examples of great successes in the fight against both of these groups of NTDs. Since 1985, 14.5 million patients have been cured of leprosy through multidrug therapy; today, less than a million people are affected by the disease. Before the start of the Guinea-worm Eradication Programme in the early 1980s, an estimated 3.5 million people in 20 endemic countries were infected with the disease. In 2005, only about 10 000 cases were reported in 9 endemic countries, and the programme is moving towards eradication. Onchocerciasis has freed more than 25 million hectares of previously onchocerciasis-infected land available for resettlement and agricultural cultivation, thereby considerably improving development prospects in Africa and Latin America.

Increased awareness and advocacy are needed to draw attention to the realistic prospect of reducing the negative impact of NTDs on the health and social and economic well-being of affected communities. The WHO Department of Control of Neglected Tropical Diseases is committed to supporting Member States and partners to achieve this goal.

UNITAID celebrates major achievements in first year of existence

20 SEPTEMBER 2007 | GENEVA -- In the year since it was established, the international drug purchase facility UNITAID has managed to reduce the price of HIV treatments for children by almost 40%, and those for second-line antiretroviral (ARV) drugs by between 25% and 50%. In collaboration with the Clinton Foundation, UNITAID has also delivered more than 33 000 paediatric treatments against HIV/AIDS and is on course to meet the needs of 100 000 children by the end of 2007.

Moreover, UNITAID has committed a total of US$ 45 million for second-line antiretroviral drugs to fund the treatment of 65 000 patients by 2008. Four countries (Botswana, Cameroon, Uganda and Zambia) have already received a first supply of second-line ARV drugs through UNITAID and a further 13 countries are currently awaiting delivery. UNITAID was launched in September 2006 during the United Nations General Assembly.

In partnership with the World Health Organization (WHO) and UNICEF, UNITAID has purchased and distributed 1.3 million Artemisinin-based Combination Therapies (ACT) in Burundi and Liberia. In addition, UNITAID is supporting ACT procurement and delivery to eight countries through collaboration with the Global Fund to Fight AIDS, Tuberculosis and Malaria, and UNICEF. Delivery of the ACTs will begin in October 2007.

UNITAID is also contributing to the fight against tuberculosis together with the Global Drug Facility and the Stop TB Partnership. By the end of the year, UNITAID will have provided TB treatments to 150 000 children in 19 countries and will be supporting the provision of drugs for Multidrug - resistant TB in 17 low-income countries.

Background on UNITAID

The mandate of UNITAID is to contribute to the scaling up of access to treatments for HIV/AIDS, malaria and tuberculosis in developing countries by leveraging quality drugs and diagnostics price reductions and accelerating the pace at which these are made available. For each programme, UNITAID sets up an ad hoc partnership with existing organizations: WHO, UNICEF, the Global Fund to Fight AIDS, Tuberculosis and Malaria, the Clinton Foundation (CHAI), Global Drug Facility/Green Light Committee and the Stop TB Partnership.

UNITAID offers beneficiary countries long-term support through sustainable and predictable funding, mobilized by innovative financing mechanisms, such as a solidarity contribution on air tickets, together with multi-year predictable budgetary contributions.

Based in Geneva, its Trust Fund and lean Secretariat are hosted by WHO. At present, 27 countries of which 19 are in Africa are members and hence contribute to UNITAID. At least 85% of UNITAID funds are spent in low income countries (LICs). The budget of UNITAID for 2007 is over US$ 300 million and 90% has already been committed to programmes in more than 80 countries.

For further information, please contact:

Audrey Quehen
UNITAID communications officer
Tel.: +41 22 791 14 37
Mobile: +33 6 86 70 97 60
E-mail: quehena@who.int

WHO stresses need to ensure the safety of children's medicines

21 SEPTEMBER 2007 | GENEVA -- The lack of thorough and reliable clinical data on the way medicines affect children requires strengthened safety monitoring and vigilance of medicinal products. This is the fundamental message of Promoting safety of medicines for children, released today by the World Health Organization (WHO).

The publication gives an overview of the problem and offers solutions on how best to address side effects from medicines in children; namely, through improved reporting systems and collaboration between governments, regulatory authorities, research institutions and the pharmaceutical industry. The publication is part of a broad effort WHO is initiating to expand children's access to quality-assured, safe and effective medicines.

"We need to learn more about the way children's bodies react to medicines so we can improve global child health. That's why it's extremely important to keep track of potential side effects in child populations. Ultimately, this will save lives and build up a knowledge base for the future," said Dr Howard Zucker, WHO Assistant Director-General for Health Technology and Pharmaceuticals.

A large proportion of side effects or adverse reactions to medicines in the adult population are due to irrational use or human error and are therefore preventable. In the case of children, even more factors come into play. The main challenge is the lack of clinical data. This results in fewer medicines being developed, produced and marketed specifically for children. Often, children are given medicines that have only been tested in adults and are not officially approved for use in child populations (this is known as "off-label use").

Non-availability of appropriate paediatric formulations forces health care providers to resort to administering portions of crushed or dissolved tablets or the powder contained inside a capsule without any specific indication of the required dosage. For that reason, according to the report, potentially harmful medication errors may be three times more common in children than in adults.

An appropriate format or structure for a child's medicine is also important. Small children sometimes choke or asphyxiate while trying to swallow big tablets. For instance, earlier this year four children under 36 months died from choking on albendazole tablets (used to combat worms) during a de-worming campaign in Ethiopia.

New and innovative medicines on the market provide indications for children but still lack evidence of long-term benefit and risk. Side effects associated with antiretroviral medicines, for example, have been reported to occur in up to 30% of HIV-infected children on antiretroviral therapy. Most of those side effects could be reversed by modifying the dosage or changing to an alternative medicine.

The report estimates that less than 10% of all serious adverse reactions to medicines are reported globally. In part, this is due to the fact that many developing countries have not yet established medicine safety monitoring and reporting systems; and when they have these are usually under-resourced. Because children - particularly very young ones - are less articulate in describing symptoms and their non-verbal communication is often misunderstood or ignored, even serious adverse reactions in children often go unreported to health practitioners or authorities.

Intended for policy-makers, manufacturers, medicines control bodies and researchers, Promoting safety of medicines for children provides a series of recommendations to address medicine safety for children.

For instance, all countries should establish national and regional monitoring systems for the detection of serious adverse medicine reactions and medical errors in children. When such reporting systems exist, it is crucial that manufacturers follow up on adverse reactions to their products once they are on the market.

In addition, regulatory authorities need to make an effort to refine the science of clinical trials in children, create an active post-marketing surveillance programme and develop public databases of up to date information about efficacy and safety in paediatric medicines.

To assist countries, WHO will:

• publish an official WHO List of Essential Medicines for Children;
• continue to create awareness in countries and in the research community on the urgent need to monitor the use of medicines in children;
• identify research gaps in children's medicines; and
• create protocols on monitoring adverse effects for child-specific medicines.

Note for editors/reporters

To ensure that a medicine works and that its adverse effects are limited, pharmaceutical companies are required by law in most countries to have tested their medicines in healthy volunteers and patients before making them widely available. The trials need to be approved by ethics committees and competent regulatory authorities. Volunteers must be made aware of the risks involved in the trials and must give their informed consent. However, ethical and regulatory approvals are much stricter for children and there is also the problem of obtaining informed consent from children and/or their carers. This results in fewer clinical trials conducted on children than on adults.

Clinical trials generally do tell a good deal about how well a medicine works for a defined disease and what potential harm it may cause. But they provide no information for populations with different characteristics from the trial group, such as age, gender, state of health, co-treatment with other medicines and ethnic origin.

Therefore, for many medicines, and particularly new, complex products, safety monitoring does not stop after launching the product; it must be followed by careful patient monitoring and by further scientific data collection.

WHO promotes medicine safety through its International Drug Monitoring Programme, which began to operate in 1968. Initially a pilot project in 10 countries with established national reporting systems for adverse reactions to medicines, the network has expanded significantly as more countries worldwide develop national pharmacovigilance centres. Currently, over 100 countries participate in the programme.

For further information, please contact:

Daniela Bagozzi
Tel.: +41 22 791 45 44
Mobile: +41 79 475 54 90
bagozzid@who.int

Hello Doctor

She was prodded by mom to call me that as i approached them to perform a heart examination for my learning experience. I blushed and confessed to mom that i am a 4th year medical student; Yet, it was too late to change the greeting as she said it in earnest whilst i listened with a smile. She had the two most alert eyes in the ward filled with children of congenital heart diseases. There were no overt physical signs or symptoms to suggest any acute illness and i knew her condition was related to an acyanotic heart lesion awaiting surgery. She had a ventricular septal defect i.e. hole between the chambers of the heart as i detected her pansystolic murmur diffused around her chest. Confident of the diagnosis, i was eager to entertain her inquisitiveness. "Are you going to examine her?" she pointed to an Ibanese toddler beside us who was drinking a packet milk. "Yes, and you'd like to see?" She nodded in earnest. "She loves babies..."commented her grandmother. "Doctor, do you see the babies?" "Doctor, can i see the babies with you?" I returned with a smile-it is those little moments when they question everything without inhibitions that brings instantaneous delight to all of us. As I squatt next to the neighbouring child after listening to her heart, she came over with a balloon and offered the Iban girl her gift. One Chinese, one Ibanian-different spoken language was none of their concerns as they understood each other's gestures-it wasn't baby talk, it was a common human language which could communicate goodness and innocence. As i stared at their formation of friendships, the scene of the previous patients replayed in my mind-it was a beautiful picture which conveys more than a thousand words-Chinese girl standing beside and playing with the hair of the Malay girl whilst she fell asleep on her sister's lap. The girl refused to leave as her mom stood at the corner of the door awaiting her to leave with her since she was discharged. I was told by the Malay mom that she comes to visit her daughter every moment-they have somewhat become playmates/friends in the plain ward.
The Ibanese mom laughed in delight as she commented "Ya, saya tak tahu bagaimana...tak sama bahasa...satu cakap Melayu, satu cakap Cina....hari itu budak India datang cakap dengan dia...nak main juga tapi dia takut...sembunyi..." We laughed simultaneously. Her daughter was popular, i said to her mom. There was a flicker of humbling pride in the mom's eyes.
I cannot hide my joy being in that moment of children's innocence-emotions are free and frank-words are secondary; only taught: "Hello Doctor" & "Bye Doctor" to bring out the child in us.