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Rare Disease Day

29 Feb, 16 | by Hemali Bedi

By Hemali Bedi

Rare diseases affect one in 2000 people or less; [1] but, rare diseases are more than just a rdd-logo-smallmedical challenge. Together, they present a public health problem that affects approximately 400 million people worldwide. [1]

February 29th marks the ninth annual Rare Disease Day, which is co-ordinated by EURORDIS. [2] With the aim of raising awareness for rare diseases, this day is celebrated by health care professionals, researchers, patients, carers and policy makers in over 80 countries across the world. [2]

People all over the world are affected by rare diseases, which make them an important global health issue. [1] The causes of most rare diseases remain unknown. [1] The challenges of living with a rare disease often include a lack of medical knowledge about the condition, delayed diagnosis and inequitable access to health care. [1] Some of these factors are listed in a recent Global Health case report by Sundram et al, which focuses on a rare congenital disorder known as Cloacal dysgenesis sequence.

At BMJ Case Reports, we are interested in Global Health case reports that focus on all the causes of ill health and access to healthcare services, whether economic, social or political – global health issues as they impact on individual patient’s lives.

With this in mind, what else can be done to raise awareness of rare diseases and promote them as an international public health priority?


[1] The World Health Organization. Priority Medicines for Europe and the World “A Public Health Approach to Innovation” Update on 2004 Background Paper.

[2] What is Rare Disease Day? Rare Disease UK., accessed 22 February 2016

Steps to success

3 Feb, 16 | by Hemali Bedi

By Kristian Dye

Frates and Crane report a case that is a little unusual among case reports. The patient had no weird or wonderful signs or symptoms. She had no particular pathology. She was not unwell. Her presentation was all about lifestyle, risk, and the case is all about modification of that risk. walking-711789_1920

The patient in this case is an archetype for many patients seen in primary care. She is overweight, has elevated lipids, has a sedentary lifestyle and has a family history of stroke.

For me, this only really poses two questions:

1. What was different in this case to those who we can convince of the value of risk modification, but who are unable to achieve it?
2. How can we achieve these kinds of results for more of our patients?

Answering these questions could reduce morbidity and premature mortality among our populations much more radically than more glamourous, cutting-edge interventions.


How to write a global health case report

22 Jan, 16 | by Hemali Bedi

By Hemali Bedi

Have you come across an interesting case in your medical training so far? Whether you have a patient in mind, are browsing through our online collection, or joining our blog, we’re here to help you submit your own global health case reports. Seema Biswas, Editor in Chief of BMJ Case Reports, guides you through the writing process in a new article featured in The Student BMJ.

Seema Biswas comments, “To make a difference in thstudent-849822_1280e lives of patients we must look at the causes of disease, which are often intrinsically related to the environment individual patients and the wider community live in. The field of global health considers the social, cultural, economic, and political determinants of health of patients with the aim of raising awareness of these causes to achieve equity in health for all people worldwide.”

Key messages in this guidance

  • Always get written consent from your patient before you put pen
    to paper. Not only is this good medical practice, it’s also mandatory if you want to submit to a journal such as BMJ Case Reports.
  • Structure your article logically. BMJ Case Reports has a global health template which you can follow.
  • Don’t forget to ask for the patient’s perspective – they may, or may not want to contribute to your article, but they should have the chance to do so.
  • Remember, global health case reports don’t have to come from abroad. Cases from your part of the world are just as worthy. We should be thinking about the social determinants of health of all our patients, wherever we happen to be working.
  • Visit the BMJ Case Reports website for examples of previously published global health case reports and look at the annotated example.

Read the full article here, join our global health blog and get writing! We look forward to receiving many interesting global health case reports!

The Student Elective Competition – have you entered yet?

31 Dec, 15 | by Hemali Bedi

By Hemali Bedi

Travelling far afield for your elective? If so, we want to hear all about it. Write up your experiences into a Global Health case report and not only could you be the lucky winner of a £500 travel bursary, your article could also be included in the 2016 special edition print journal.

We’ve put together a quick guide to tell you everything you need to person with suitcaseknow.

What is a Global Health case report?

Global Health case reports should focus on:

  • the causes of disease
  • the social determinants of health
  • access to healthcare services
  • how Global Health issues affect individual lives

Global Health case reports require a comprehensive review of the relevant literature. This includes related publications published by governments and global organisations, not simply the medical literature. For more information, see our website.

What could I win?

  • A £500 travel bursary to help you attend a medical conference or event related to Global Health.
  • Your article will be published in our 2016 special edition print journal along with three runners-up.

How do I get started?

Before you begin, why not have a browse of our existing Global Health case reports collection? Be sure to check out our Instructions for Authors for guidance on patient consent, the submission process, and formatting issues such as the use of images. If you’ve never written a Global Health case report before, you may find our template useful to help get you writing.

The deadline for entries is 30th April 2016. For more information, visit our competition website or get in touch!

Palliative care conundrums in an Ebola treatment centre

21 Dec, 15 | by Hemali Bedi

By Kristian Dye

Dhillon et al. present a case discussing the care of a patient with Ebola, which demonstrates in a micromedical-563427_1280cosm some of the biggest issues facing healthcare providers in patients with palliative or terminal care needs – albeit in a particular extreme care environment.

In the case, the patient is declared palliative and restarted on active management, before being considered palliative once again and passing away.

These are issues which perplex physicians in all care settings.

  1. When do we consider a patient for palliative
    care only?
  2. How can we reconcile differing beliefs and values within the team to deliver the best care for patients?

Deciding a patient is palliative

This is an issue that continues to vex physicians the world over. Cardona-Morrell and Hillman identify no less than 18 different scales and assessment tools available to attempt to guide these decisions, none of which are perfect.

Rightly, much of this effort is focused on identifying those within the population who are entering the end of life, and for whom discussions and decisions surrounding palliative care can help them to avoid invasive and unpleasant interventions – in the UK the Gold Standard Framework is the current tool used in community settings.

The difficulty with many of these tools is that they are not well-suited to the kind of case presented here. The ‘normally fit but acutely unwell’ patient presents a real problem for prognostication – where patients in similar situations receive the same care, some will still die, others stage recoveries that would make Lazarus jealous. In these situations, how can we make clinical judgement without losing the patient in the interest of treating clinical indicators?

Team-based approaches in palliative care

Palliative care is one of the areas of medical practice where personal values can have the biggest impact on the judgements physicians make. We all bring with us a multiple of baggage – emotional, cultural and religious – that colour our views.

A helpful summary of religious views on palliative care, by Steinberg, demonstrates the breadth of both agreement and disagreement between major religions on this topic.

Alongside this, our practice has to be informed by the ethical principles underpinning medical care. Respect for autonomy, the duty to act in the patient’s best interest and the duty not to harm our patients are all critical to decisions around palliation of the dying patient – and all are open to interpretation by the practitioner.

What approaches can we take to ensure that judgement are taken by consensus, objectively, and within the context of the individual patient?

Introducing BMJ Case Reports 10,000 cases special edition booklet

14 Dec, 15 | by Hemali Bedi

By Hemali Bedi

We are pleased to announce that BMJ Case Reports has published over 10,000 online cases. And what better way to celebrate this massive milestone than by sharing our second print edition – the 10,000 cases special edition booklet.

Seema Biswas, Editor in Chief of BMJ Case Reports, comments, “As we enter this new phase, we want to highlight Global Health: improvement in health and access to healthcare for all; and to make sure that all our case reports, clinical or Global Health, include the patient’s perspective.”

Our aim is to publish cases with valuable clinical lessons, with the advantage being that we learn from real cases. We hope that this special collection of case reports will serve as a useful educational resource that supports both learning and teaching. Why not have a look and let us know what you think? We’d love to hear your feedback.

We would like to thank all of our authors and contributors, and we look forward to welcoming many more cases in the days to come.

Malpositioned IUCD: the menace of postpartum IUCD insertion

1 Dec, 15 | by Hemali Bedi

By Manasi Jiwrajka

The three cases presented by Nigam et al outline the malposition of an intra-uterine contraceptive device (IUCD) in young women who had given birth in the previous 1-2 years.

Some significant global health problems in this report are:

  1. The importance of contraception and family planning in India
  2. Contraceptive options available for women

Family planning and population control

India has an interesting history of government level family planning options including a mass sterilisation campaign initiated in the 1960s and more recently, one that received much media attention due to 12 women who died at a government-run tubectomy camp. (1)  The Indian government has advertised vasectomy, tubal ligation and other reversible and temporary contraceptive methods for population control. In fact, there are government incentives for those who undertake sterilisation surgery, a tradition held on since the 1970s emergency and poverty-stricken period in India. (2) More than sixty years later, India continues to struggle with its population, and it appears that the mass sterilisation attempts have failed to adequately control the booming population.

Contraceptive options available

My experience of working in resource-poor settings in India has been that many women do not want to give birth immediately after marriage, or immediately after having given birth to a baby, but face enormous pressure from their husbands and families to give birth again. One big factor in India is that of a son preference, which results in families trying to conceive until they have a son or more. (3) As such, many women prefer concealed approaches to birth control that they do not have to justify to their families – such as the depot or the IUCD. A recent study investigated the influence mother-in-laws have on contraception and family planning decisions because they found that “in casual discussions during the intervention project, rural women often mentioned that mothers-in-law were opposed to young women’s desire to limit family size.”(4)

Some real solutions or alternatives to sterilisation and these reversible contraceptive methods are fundamental. Some include: (i) Spacing out children, (ii) Delaying first pregnancy, and (iii) Education of both men and women.

What do you think? Are there other alternatives and solutions?


  1. Burke J. India mass sterilisation: women were ‘forced’ into camps, say relatives. The Guardian. 2014.
  2. Matthews Z, Zoë M, Sabu SP, Inge H, Juliet M. Does early childbearing and a sterilization-focused family planning programme in India fuel population growth? Demographic research. 2009;20:28.
  3. Char A, Saavala M, Kulmala T. Influence of mothers-in-law on young couples’ family planning decisions in rural India. Reproductive health matters. 2010;18(35):154-62.
  4. Pachauri S. Priority strategies for India’s family planning programme. The Indian Journal of Medical Research. 2014;140(Suppl 1):S137-S46.

Case Report: An 11-year-old boy with silico-tuberculosis attributable to secondary exposure to sandstone mining in central India

28 Aug, 15 | by Jenny Thomas

By Midhun Mohan

This is a case about an 11-year old who developed silicosis after being exposed to sandstone mining. Stone-mining is a lucrative industry producing billions of dollars in export every year. Despite being highly profitable, the health impacts of the industry are severely under researched.

The authors state that:

“no preventive measures have been instituted in the stone-mining industry and children are exposed to respirable silica dust when their mothers take them to their work places”

Despite the fact that legislation exists to protect these workers, employers disregard the law and turn a blind eye. Extreme poverty means these workers are not able to quit thus enduring these conditions to earn a living.

Why is the state not penalising the mine owners?

Simple answer – Corruption.

Corruption aids and amplifies this situation. The state ignores the problem since the industry generates much foreign exchange.

How can these poor families be empowered to take a stance against the mine owners?

Can technology help reduce childhood blindness in developing countries?

22 Jul, 15 | by Kristy Ebanks

By Midhun Mohan

This case report outlines an extremely important treatable global health issue: childhood blindness.

Access to essential paediatric eye surgery in the developing world: a case of congenital cataracts left untreated
Untreated childhood cataracts remain prevalent especially in developing countries. They are a major health burden, not only affecting the individual’s quality of life but also predisposing the individual to becoming a financial burden for the country. This report is of a case of congenital cataracts in a young boy from the Philippines who was left blind since birth.
The mother observed the boy’s vision problems when she noted him bumping into things at the age of 1. When the boy was 2, the health care worker noted opacities on both lenses. The boy was seen at the rural health clinic at the age of 5 and diagnosed with bilateral congenital cataracts and referred to an opthamologist.
Note above the three year delay in getting the boy seen at the rural health clinic. This delay is likely due to:
The poor education of the parents affecting their health seeking behaviours and thus not fully appreciating the seriousness of their child’s condition
Inadequate competency levels of the health care workers. This is could be due to a lack of proper training, which is likely to stem from a lack of funding

Despite being diagnosed, the patient remained untreated for the next 7 years!
What was the reasoning behind such a long gap between diagnosis and treatment? There were two reasons:
The family were not able to afford the treatment
There was a lack of funding from the national health provider

The patient was not able to attend follow up, and three months after surgery, the patient’s visual acuity started to decrease.
There are 3 main factors that that can result in good visual outcomes after cataract surgery:

  • Early recognition
  • Surgical intervention
  • Good follow up after surgery

The report states that:
“Early diagnosis is essential for appropriate and timely intervention and good visual function. Visual outcome is largely dependent on the timing of surgery when dense cataracts are present. Good results have been reported in children undergoing surgery before 6 weeks of age for unilateral cataract and before 10 weeks of age in bilateral cases”

What are the ways in which early diagnosis and intervention can be increased?
It is important to note that any proposed method of increasing early diagnosis has to be economically viable for this developing country. A novel tool that has been recently introduced is the “Portable Eye Examination Kit (PEEK).”

Portable Eye Examination Kit (PEEK)
PEEK is a multifunctional, smartphone based tool which aims to empower eye health workers to diagnose eye diseases and provide a low-cost device for managing and monitoring the treatment of patients.
The modified smartphone contains a series of eye tests in the form of apps that can be used by individuals with little training. Furthermore, because the eyes tests are on a smartphone, it is extremely portable being able to reach the most remotest areas.
One of the app’s it contains is the “Acuity App” which uses a shrinking letter that appears on screen and is used as a basic vision test. It uses the camera’s flash to illuminate the back of the eye to check for disease.
The smartphone is relatively cheap, costing around £300 rather than using bulky eye examination equipment costing in excess of £100,000. The low cost of this device makes it very appealing for developing countries.

Below are useful links to learn more about the Portable Eye Examination Kit (PEEK)

Technology has the potential to greatly enhance patient care especially in developing countries. If PEEK was available in this boy’s village, could his blindness have been prevented?


The Devastating Effects of a Fire Burn in a Child

6 Jul, 15 | by Kristy Ebanks

By Manasi Jiwrajka 


I recently completed a surgical placement with a Burns Unit, and was drawn to a recent case report on Global Health describing the appalling effects of severe paediatric burns. The Devastating Effects of a Fire Burn in a Child (1) is about a 2-year old boy with 40% burns to his head and arms. He was not seen immediately after the burn, instead, he presented 1 month later to an eye clinic in Hakkari, Turkey. By then he was blind.

This case raises two main issues:

  1. “Accidental house fires cause nearly half (49%) of the injuries resulting in death” (1). How could these be prevented?
  2. Delayed presentation without adequate first aid led to a poor outcome for the child. Would the outcome have been different if the patient had better access to healthcare?


“Burn injuries represent a significant public health concern in both developing and developed countries” (1). Specifically, the WHO estimates that 265 000 deaths occur each year from fires alone, with more than 96% of deaths occurring in low and middle-income countries. Mortality due to burns is over 10 times higher in low and middle income than in high income countries (2). Many studies have found a correlation between socioeconomic deprivation and the incidence and severity of burn injury (3-5). The socioeconomic factors including crowding, poverty and poor maternal education pose as significant risk factors for paediatric burns (6).

Causes of burns

The relevance of this case in Hakkari, in Turkey is that “the incidence of childhood fire burns in Turkey is unknown because of inadequate records.” (1). “In Turkey, tea is made using two narrowly based containers that are stacked on top of each other”; these may easily topple (7). Globally, most burns occur at home, especially in the kitchen. Paediatric burns often occur when parents leave their children alone (even for a moment). His mother “left [her] baby at home sleeping near the electric heater” (1, 8, 9).

Worldwide, open flame burns are the most common, followed closely by scalds. Ignition of clothing is a common cause of burns in low and middle income countries including Ethiopia, India and Papua New Guinea. In Ethiopia, it was found that 93% of burn injuries in rural areas were due to open fires inside homes causing the ignition of clothing. In India, saris catching fire whilst cooking on kerosene stoves are a cause of deaths due to burns amongst adults. Similarly, 50% of hospitalizations due to burn injuries in Papua New Guinea are due to ignition of grass skirts (10-13). In Mexico, Ghana and Taiwan, boiling liquids and hot baths were found to cause scalds among children (2, 14-16).

Global Health Issues

There are several socio-economic factors that play a role. The authors write:

“Socio-demographic factors linked to an increase incidence of burns include low household income, living in a deprived are, living in rented accommodation, young mothers, single-parent families and children from ethnic minorities. The parental educational level, parent occupation and the type and size of accommodation are also important.”

The issue of access to healthcare is two-fold: (i) access to treatment and (ii) access to prevention. This patient’s mother quotes, “because we are poor and have no health insurance, I could not take the child to the hospital right away. It was only one month later that I was able to take the child to an ophthalmologist” (1). Access to a reliable electrical supply precludes the use of open fires.

Burn care costs comprise preventative measures, emergency response, and treatment and follow-up. In Turkey, Sahin et al. showed that the mean cost associated with per percent of burn area was $368 (compared to $927 per percent burn in New Zealand), and each percent burn corresponded to 2 days in the hospital. In the case of the 2 year old patient with 40% burns, the total cost would be about $15000 with 80 days in the hospital. This overall cost of burn management is higher than other medical problems such as stroke and HIV/AIDS (17, 18). In comparison, cost analysis of burns management in Australia showed that management of burns patient was not significantly higher than other patients in ICU receiving a similar level of care. The only difference, however, was in physiotherapy, dressing and medication costs (19). This lack of discrepancy in Australia could be attributed to overall increased healthcare costs rather than specifically for burns, similar to the high cost in New Zealand. In low and middle-income countries, including Turkey, the costs associated with HIV/AIDS and cardiovascular issues is lower than burns due to the availability of knowledge, resources and medical specialists compared to burns management that requires highly specialised care. A lack of specialist burn services is, therefore, an important factor not only in burn care, but also in healthcare funding.

Interventions to prevent burn injuries can be divided into education programs, engineering programs and enforcement, and include “improvement in socioeconomic status, improved housing, provision of basic amenities (eg, water), proper regulation and design of industrial products (eg, kerosene stove), proper storage of flammable substances, and supervision of children” (20).

Education is also fundamental to long-term awareness of burn injuries. The authors suggest “the establishment of a national programme would help ensure sufficient funds are available and allow coordination of the efforts of district, regional and tertiary care centres.” Others suggest the need for public education, broadcasting programmes, and the implementation of stringent government regulation (7).


  1. Istek Ş. The devastating effects a fire burn in a child. BMJ Case Reports. 2015;2015.
  2. Agbenorku P, Agbenorku M, Fiifi-Yankson PK. Pediatric burns mortality risk factors in a developing country’s tertiary burns intensive care unit. International Journal of Burns and Trauma. 2013;3(3):151-8.
  3. Edelman LS. Social and economic factors associated with the risk of burn injury. Burns : journal of the International Society for Burn Injuries.33(8):958-65.
  4. Cubbin C, Smith GS. Socioeconomic Inequalities in Injury: Critical Issues in Design and Analysis. Annual Review of Public Health. 2002;23(1):349-75.
  5. Park JO, Shin SD, Kim J, Song KJ, Peck MD. Association between socioeconomic status and burn injury severity. Burns : journal of the International Society for Burn Injuries. 2009;35(4):482-90.
  6. Delgado J, Ramírez-Cardich ME, Gilman RH, Lavarello R, Dahodwala N, Bazán A, et al. Risk factors for burns in children: crowding, poverty, and poor maternal education. Injury Prevention. 2002;8(1):38-41.
  7. Nursal TZ, Nursal TZ, Yildirim S, Tarim A, Caliskan K. Burns in Southern Turkey: Electrical Burns Remain a Major Problem. Journal of burn care & rehabilitation. 2003;24(5):309-14.
  8. Forjuoh SN. Burns in low- and middle-income countries: A review of available literature on descriptive epidemiology, risk factors, treatment, and prevention. Burns : journal of the International Society for Burn Injuries. 2006;32(5):529-37.
  9. Rossi LA, Braga ECF, Barruffini RdCdP, Carvalho EC. Childhood burn injuries: circumstances of occurrences and their prevention in Ribeirão Preto, Brazil. Burns : journal of the International Society for Burn Injuries. 1998;24(5):416-9.
  10. Sawhney CP. Flame burns involving kerosene pressure stoves in India. Burns : journal of the International Society for Burn Injuries. 1989;15(6):362-4.
  11. Kalayi GD. Burns in children under 3 years of age: the Zaria experience. Annals of tropical paediatrics. 1996;16(3):243-8.
  12. Barss P, Wallace K. Grass-skirt burns in Papua New Guinea. Lancet. 1983;1(8327):733-4.
  13. Peck MD. Epidemiology of burn injuries globally. 2015. In: UpToDate [Internet]. Waltham, MA: UpToDate.
  14. Hijar-Medina MC, Tapia-Yanez JR, Lozano-Ascencio R, Lopez-Lopez MV. [Home accidents in children less than 10 years of age: causes and consequences]. Salud publica de Mexico. 1992;34(6):615-25.
  15. Tung KY. A seven-year epidemiology study of 12,381 admitted burn patients in Taiwan–using the Internet registration system of the Childhood Burn Foundation. Burns : journal of the International Society for Burn Injuries. 2005;31 Suppl 1(1):S12-7.
  16. Forjuoh SN. Childhood burns in Ghana: epidemiological characteristics and home-based treatment. Burns : journal of the International Society for Burn Injuries. 1995;21(1):24-8.
  17. Sahin I, Ozturk S, Alhan D, Açikel C, Isik S. Cost analysis of acute burn patients treated in a burn centre: the Gulhane experience. Annals of Burns and Fire Disasters. 2011;24(1):9-13.
  18. Lofts JA. Cost analysis of a major burn. The New Zealand medical journal. 1991;104(924):488-90.
  19. Patil V, Dulhunty JM, Udy A, Thomas P, Kucharski G, Lipman J. Do burn patients cost more? The intensive care unit costs of burn patients compared with controls matched for length of stay and acuity. Journal of burn care & research : official publication of the American Burn Association. 2010;31(4):598-602.
  20. Peck MD. Prevention of fire and burn injuries. 2015. In: UpToDate [Internet]. Waltham, MA: UpToDate.


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