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Socioeconomic Privation & Congenital Birth Defects – Cause or Coincidence?

1 Jun, 15 | by Kristy Ebanks

By Kristian Dye

This week I’m looking at two very sad cases of stillbirth in Cali, Colombia.

When we think of disease caused by social circumstance we often imagine non-communicable diseases or infectious diseases, usually where poor living conditions loom large in the aetiology.

When we consider the higher rates of genetic birth defects in socially disadvantaged populations we often express our dismay at what rotten luck it is that this happens to people who are also poor. Here, we miss a key to understanding these diseases. The circumstance of being socioeconomically deprived can provide the conditions necessary for defects of the type in these cases to occur.

Sirenomelia is a rare congenital defect with a prevalence rate of around 1 in every 100,000 birth, and 300 cases have been reported in the literature. The aetiology and pathophysiology of the defect is not well understood, but is thought to be related to vascular abnormality.

‘The vascular steal hypothesis suggests the existence of an anomalous vessel impeding proper blood flow to the caudal end of the embryo. One of the most important early findings in prenatal imaging is a SUA [single uterine artery] of abnormal origin, with SUA of vitelline origin being considered characteristic of sirenomelia.’

There are a number of known risk factors associated with sirenomelia, including maternal diabetes and exposure to teratogenic drugs (such as anti-convulsants or retinoids). Neither mother had abnormal glycaemic control, and neither had been exposed knowingly to teratogens. Incidence of sirenomelia appears to decrease with advancing maternal age – and both women were in the non-increased prevalence group. The only common risk factor between the women was their access to water. Both women relied upon a nearby river for their water – a river which is known to be contaminated with leachate from landfill.

‘During their normal daily activities they were exposed to the river that flows near their homes, where they would wash their clothes and perform personal hygiene activities.’

The contaminated water is known to affect changes in the fish population. The women lived less than 2km from one another. There is a large amount of literature which has observed a correlation between socio-economic status and increased incidence of congenital abnormality – and in particular between proximity to landfill and deformity. One study, of centers in the UK, found that the relative risk of non-chromosomal abnormalities increased by 40% between the most affluent quintile and the most deprived. Where the literature perhaps underestimates the effect at the level of the global population is that the majority of studies are based in the North America or Europe, where socioeconomic deprivation is less relative to the global standard, and where there is a great deal more environmental regulation than elsewhere in many other parts of the world.What is clear, however, is that we can’t think of socially determined health in simple terms of diseases that are transmitted within poor conditions, or are developed as a result of poor nutrition, education or living conditions. Children can be born with disability and disease as a result of the conditions their mothers live in.

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Ramifications of poor medical education and screening in minority populations: an extensive acral melanoma

26 May, 15 | by Kristy Ebanks

By Manasi Jiwrajka

Ramifications of poor medical education and screening in minority populations: an extensive acral melanoma reports a case of a Samoan man with acral melanoma and explores the precipitating factors leading to the progression of a condition that may otherwise have been screened for and treated at a much earlier stage.

This case is from the Naval Health Clinic in Honolulu, Hawaii. The authors report the case of an 82 year old Samoan man who presents with pain in his left heel “due to a large [9x7cm], exophytic, hyperpigmented, polypoid mass.” No lymphadenopathy or symptoms were reported. A diagnosis of acral lentiginous malignant melanoma was made after an MRI and a biopsy of the fungating mass. The case reports that “Native Hawaiians and Pacific Islanders were one of the only two racial groups where the leading cause of death was cancer, with rates above the national average.”

The Pacific Islands including Fiji, Tonga and Samoa have a rich cultural history dating back to about 1000BCE, followed by German, American, New Zealand and British colonial rule until the 1900s (2).Samoa is made up of nine volcanic islands, located in the Pacific Ocean. The islands are divided into two territories: the American territory and the Independent State of Samoa. Of cultural and political relevance is the social structure of families and groups, whereby although nuclear families exist, traditionally, each family is part of an ‘aiga’ or an extended family headed by a mataai (leader) who has a voice in the village.

Whilst the American part of Samoa is developed due to the resources available from the United States, the Independent Samoa lags behind economically as well as in terms of healthcare. In the 1940s, many primary healthcare institutions were set in place as an after-effect of the historical colonial rule, and medical practitioners now exist in Samoa. “In 2005, Samoa had 0.27 physicians per 1,000 population, 0.02 pharmaceutical personnel per 1,000, 0.03 dentistry personnel per 1,000, and 0.94 nurses and midwives per 1,000 [compared to Australia that had] 2.99 physicians per 1,000 population, 1.04 pharmaceutical personnel per 1,000, 0.69 dentistry personnel per 1,000, and 9.59 nurses and midwives per 1,000.” (3) In many Samoan villages the traditional healers or fofo (most recent estimate is 900 traditional healers in Samoa) still continue to provide traditional care (3). In more recent times, these fofos have received public health training, which has given rise to a combination of both biomedical and traditional theories of illness, while at the same time creating a conflict between the two paradigms (2). For many Samoans overseas in Australia, New Zealand or the United States, there is a belief that illness occurs either through spirits or because they have not helped their family back in Samoa (4). Perhaps as a consequence of previous colonial rule, there is a lack of trust towards Western medical practices, and if medicine does not work, Samoans refer to the fofo (4).

Melanoma as a Global Health Issue

Melanoma is a Global Health issue; globally, it is the 19th most common cancer and 232,000 new cases were diagnosed in 2012, which constitutes 2% of all cancers (5). The WHO estimates that one in three diagnoses of cancer is in fact skin cancer. In countries such as Australia, melanoma is the fourth most common cancer diagnosed (6) and as such national preventative strategies have been implemented, and screening processes have been employed by healthcare services for early identification and excision of melanomas. These preventative strategies include reducing sun exposure, sun protection and a complete skin examination by the primary care doctor (7). In the case, the Samoan patient there was a two-fold delay: first, in the delay of diagnosis, which is common in people of colour because of the common misconception that melanoma does not affect dark-skinned people (8); and second, a delay in seeking care at an earlier stage of his condition “due to lack of understanding of knowledge to disease and the long distances that must be traveled to obtain proper, specialty care.” (1)

Accessing Healthcare – Equity and Barriers

There are biological and social determinants of health. In the above mentioned case, a biological determinant of the Samoan patient would be his dark skin tone, and as such his increased predisposition to acral melanomas. Some of the social determinants include socioeconomic status, education, cultural beliefs and health insurance. Specifically, the case report mentions that “low socioeconomic status patients generally know little about their own medical condition, tend to have a high school education or less, and have difficulties arranging transport, all factors contributing to care barriers.”(1) These factors have a follow-on effect that influences access and compliance of care. Problems with access or proper compliance invariably results in patients presenting with advanced disease, which is a burden both for the patient as well as the health system.

The three-delay model (9) used in maternal health is a useful tool to conceptualize the barriers experienced by minority groups: (i) a delay or barrier in making a decision to seek care (ii) barrier to reaching care, as well as (iii) barriers to receiving adequate health care.

(i) Delay in seeking care

Lack of knowledge

In the case report, the authors write about the relevance of education: “low socioeconomic patients generally know little about their own medical condition, tend to have a high school education or less”. As a result, they present to the doctor much later in the progression of their disease compared to patients of a higher socioeconomic status who “tend to recognise skin changes when they self-screen and obtain medical treatment earlier”(1).

Some Samoans believe in the role of traditional healers or fofo, creating a conflict between Western medicine and traditional beliefs. “Healthcare practices often clash with societal beliefs, and so patient education regarding their disease and its possible progression is important.” (1)

Cost – benefit

Similarly, other factors causing delay in seeking care are economic in nature. There is an opportunity cost associated with seeking care — leaving work to go to a healthcare practice implies that the patient (and maybe another relative) will need leave from work and lose income.  In the case of acral melanoma, where early identification of the melanocytic lesion is hugely influential on prognosis, a delay in seeking care due to a lack of knowledge or due to the cost of seeking care can have significant implications on the progression of the condition.

(ii) Barriers to reaching care

These barriers are often physical or geographical. Remoteness and a lack of transportation networks for access to even basic services is prohibitive of Global Health. “Poor access to care for [rural and isolated] populations is mainly due to remoteness, travel time, lack of speciality care, and the cost of obtaining healthcare services, with longer distances correlating with infrequent doctor visits, decreased use of preventive services and fewer routine follow-up visits” (1). There is good evidence that rural populations have poor access to healthcare services and consequently poorer health outcomes (10-12). “Having a usual source of care improves access to medical screening services and decreases health disparities; however, this is often not available to minorities.” (1)

(iii) Barriers to receiving adequate care

These barriers are crucial to identify and address as they are a pervasive barrier to Global Health. In Samoa, there is no universal medical benefit system; however some government healthcare agencies provide some free healthcare (3). American Samoans and other “uninsured minorities are eligible for insurance [but] they often do not sign up for it due to lack of awareness or limited proficiency in English” (1). Language barriers can cause poor communication and decreased trust between the doctor and the patient. Another barrier to receiving good care is the cultural competency of the physician. “Typically, the ethnicity of physicians does not reflect that of their patients, who consequently believe that their physician is unaware of popular culture alternative/holistic medicine. Perhaps a Samoan provider would have related better to our patient…and would have educated him about his advanced disease and need for modern medical treatment, thus leading to a better outcome (1).”

We as health professionals can play a crucial role in addressing some of these barriers to adequate healthcare, and subsequently reducing the burden on health systems globally.

1. Jackson CR, Fernelius C, Arora N. Ramifications of poor medical education and screening in minority populations: an extensive acral melanoma. BMJ Case Reports. 2015;2015.

2. Ember Ea. Encyclopedia of Medical Anthropology: Health and Illness in the World’s Cultures. New York: Kluwer Academic Publishers; 2004 2004.

3. Boslaugh SE. Health Care Systems Around the World: A Comparative Guide. Health Care Systems Around the World: A Comparative Guide. SAGE Publications, Inc. Thousand Oaks, CA: SAGE Publications, Inc.; 2013.

4. Queensland Health SoQ. Samoan Ethnicity and Background [Web]. 2014 [updated 12 June 2014]. Available from:

5. Holmes D. The cancer that rises with the Sun. Nature. 2014;515(7527):S110-S1.

6. Waterford K. Melanoma: from little things, deadly things can grow: Australian Medical Association; 2014. Available from:

7. Markovic S, Svetomir NM, Lori AE, Ravi DR, Roger HW. Malignant Melanoma in the 21st Century, Part 1: Epidemiology, Risk Factors, Screening, Prevention, and Diagnosis. Mayo Clinic proceedings. 2007;82(3):364.

8. Gupta S. Skin colour: No hiding in the dark. Nature. 2014;515(7527):S121-S3.

9. Thaddeus S, Maine D. Too far to walk: Maternal mortality in context. Social Science & Medicine. 1994;38(8):1091-110.

10. Armstrong KEJPJV, B K, K. E. Jong PJV, Armstrong BK. Rural inequalities in cancer care and outcome. Medical journal of Australia. 2005;182(1):13-4.

11. Casey MM, Thiede Call K, Klingner JM. Are rural residents less likely to obtain recommended preventive healthcare services? American Journal of Preventive Medicine. 2001;21(3):182-8.

12. Nemet GF, Bailey AJ. Distance and health care utilization among the rural elderly. Social Science & Medicine. 2000;50(9):1197-208.

Maternal mortality in the developing world – what circumstances lead to the death of this young woman?

18 May, 15 | by Kristy Ebanks

By Midhun Mohan – Student Editor

Read this case about a 25-year-old anaemic woman who died from a massive atonic postpartum haemorrhage

How and why did this happen?

The case report states that on a national scale a culmination of three factors are responsible for the state of healthcare in India, especially in regard to the rural poor.

  1. Poor handling of healthcare funds
  2. Corruption at local and national levels
  3. High levels of illiteracy in the poor, that prevent access to available healthcare and leads to a failure of women asserting their healthcare rights

On a local scale, obstetric care provided by local birth attendants with variable levels of training may be fall far below accepted standards.

The report states:

A 12-h period (one night) was wasted in futile attempts to deliver but also, multiple internal examinations led to development of Gram-negative septicaemia superimposed on existing anaemia, resulting in massive atonic PPH and death

Could this have been avoided if the woman had been transferred to the hospital sooner?

In 2005, the Indian government started a cash incentive scheme for poor pregnant woman to promote institutional deliveries. The aim was to reduce maternal and neonatal mortality.

Read more about it here:

Despite this scheme increasing the number of institutional deliveries the maternal mortality has not decreased. Why? The reasons are likely to be multifactorial.

One study conducted in another rural district in India concluded that the following factors contributed to maternal deaths:

  1.     Absence of antenatal care despite high levels of anaemia
  2.     Absence of skilled birth attendants
  3.     Failure to carry out emergency obstetric care
  4.     Referrals that never resulted in treatment

This case report provides a useful insight into the state of obstetric medicine in rural India. Women from deprived nations all over the world suffer from the same sub-standard obstetric care. When a woman dies she leaves behind children who need care.

The statistics released recently by the LifeBox Foundation are staggering. They are as follows:

  1. 1,000,000 BABIES. A million children a year could be saved by safer obstetric surgery
  2. 5 BILLION IN DANGER. Around the world, billions of women, children, and families lack access to the most basic surgical care
  3. 800 WOMEN A DAY. Preventable pregnancy-related causes including unsafe surgery kill hundreds of women daily

Click here to link to learn more about the LifeBox Foundation

What are the causes of maternal mortality worldwide and what has been done to reduce this? What else needs to be done to really improve obstetric care?

This article is published under a CC-BY-NC licence for permissions email

Genetically-modified embryos

25 Apr, 15 | by Dr Dean Jenkins

This isn’t a case as such but it is early work on human embryos exploring the technique of gene editing.

“The prospect of genetically engineering humans has come a step closer, with the publication of the first paper to describe efforts to modify embryos. There is a long way to go before we can safely tinker with our genes, but at least one group in the US and four in China are aiming to edit human embryos: this will be the first of many studies.”–more-will-come.html


This modification was achieved by ‘editing’ the DNA using a technique called the CRISPR.

“However, the efficiency of homologous recombination directed repair (HDR) of HBB was low and the edited embryos were mosaic. Off-target cleavage was also apparent in these 3PN zygotes as revealed by the T7E1 assay and whole-exome sequencing.”

Screenshot from 2015-04-25 21:37:39

This technique holds promise for genetic diseases such as cystic fibrosis.

Breast pain in a patient on dialysis

24 Apr, 15 | by Kristy Ebanks

Calcific uremic arteriolopathy

We have some very interesting images for you but, can you answer the questions below?

buscher_4 buscher_3 buscher_2

1. What are the indications for dialysis?
2. What are the complications of dialysis?
3. What is calcific uremic arteriopathy?

If you don’t know the answers or want to know more read ’Breast pain in a patient on dialysis: a rare manifestation of calcific uremic arteriolopathy

Acquired savant syndrome

18 Apr, 15 | by Dr Dean Jenkins

Following a head injury whilst skiing an anonymous US lady now complains of remembering too much.

I could remember everywhere, like flicking through the pages of a book. Every place I had ever been, but specifically the buildings.

The lady goes on to say that her neurologist is considering writing up her case. I wonder if it will be submitted here?

The story has been reported in the press:

Woman claims ski accident has given her extraordinary mental powers (Independent)

‘A ski accident left me with advanced mental abilities’: US woman tells her extraordinary story (Telegraph)

Picture of skiier

The Case of an ACL deficient knee

9 Apr, 15 | by Kristy Ebanks

Anterior Drawer test in an ACL deficient knee

We have some very interesting images for you but, can you answer the questions below?


1. What is the anterior draw test?
2. What do you see in these figures?
3. How else might the ACL be tested?

If you don’t know the answers, want to see a video or want to know more read ’Patient self-demonstration of the Anterior Drawer test in an ACL deficient knee

A rare but potentially fatal cause of diarrhoea and weight loss

2 Apr, 15 | by Kristy Ebanks

Enteropathy associated T-cell Lymphoma

We have some very interesting images for you but, can you answer the questions below?

Figure_2 (3) Figure_3 Figure_4 (1)

1. Diarrhoea can kill – under what circumstances may diarrhoea be fatal?
2. What types of enteropathy do you know?
3. How would you manage life-threatening diarrhoea due to a range of causes?
4. How would the different causes affect your management?

If you don’t know the answers or want to know more read ’A rare but potentially fatal cause of diarrhoea and weight loss: Enteropathy associated T-cell Lymphoma

Virchow-Robin spaces

19 Mar, 15 | by Kristy Ebanks

Hydrocephalus due to extreme dilatation of Virchow-Robin spaces

We have some very interesting images for you but, can you answer the questions below?

Image3 Image2 Image1

1. What are Virchow Robin spaces?
2. What do these images show?
3. How would you manage this hydrocephalus?

If you don’t know the answers or want to know more read ’Hydrocephalus due to extreme dilatation of Virchow-Robin spaces

Student Editor BMJ Case Reports

19 Feb, 15 | by Kristy Ebanks

BMJ Case Reports is looking for a medical student to work with us to enhance the journal for student authors and readers. BMJ Case Reports is an award winning online journal that publishes articles in all specialties – there are currently more than 10,000 published articles from 70 countries.

We want the Student Editor to identify the cases that are of most value for medical students and highlight these in our Blog – these will be the cases that have excellent learning points for students at all stages of their training and may be “textbook cases”.

You will also work on our newly created Global Health blog where where we feature case reports that discuss the social determinants of health and challenges (and potential solutions) to important Global Health problems. We are keen to develop this collection and to attract articles based on student electives.

We estimate that you will need to devote two to three hours per week to the role. You will have access to all the published articles and you may submit your own to be peer reviewed. You will be listed on our Editorial Board with a brief biography and we will support your attendance at events for medical students so you can promote BMJ Case Reports.

You can work remotely and you are welcome to visit us at BMA House and to attend any editorial meetings.

If you are interested in applying for the role please send your CV and ideas on how to improve the value of BMJ Case Reports for medical students to before 31st March 2015. We welcome applications from students in any year.

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