Year: 2023

Activists Meet to Discuss Worsening Food Crisis for Children

Photo by Thought Catalog on Unsplash

A group of activists for food access and affordability met yesterday (Thursday 21 September 2023) to discuss the worsening food crisis for children. Convened by the Nelson Mandela Children’s Fund and the DG Murray Trust, the meeting sought to identify urgent measures to combat rising rates of severe acute malnutrition and child hunger.

The activist group includes representatives of COSATU, the South African Council of Churches, civil
society groups and academics. It endorsed the proposal by the DG Murray Trust and the Grow Great Zero-Stunting Campaign for government and the food industry to contribute equally in making at least one product label of ten highly nutritious foods far more affordable to poorer households. This proposal requests food manufacturers and retailers to ‘double discount’ a list of ten best buy foods, with the amount of profit waived by industry matched by a retail subsidy by government.

“Data from the Department of Health shows that there were over 15 000 cases of severe acute malnutrition requiring hospitalisation in the 2022/3 financial year,” says Dr Linda Ncube Nkomo, CEO of the Nelson Mandela Children’s Fund. “But that is just the tip of the iceberg”, she says. “Malnutrition is the underlying cause of about one-third of all child deaths in South Africa today, this despite Section 28 of the Constitution which guarantees the right of nutrition to every child”.

The problem of acute malnutrition worsens the chronically high levels of food insecurity in South Africa,
with over a quarter of children under five nutritionally stunted. Poor physical growth is just one manifestation of much deeper damage being done to the life-long wellbeing of children, not least to their brain development,” says Dr Edzani Mphaphuli, Executive Director of the Grow Great zero-stunting campaign. “If we don’t stop stunting now,” Mphaphuli continues, “we shouldn’t expect learning outcomes to improve or our economy to grow.”

In addition to the double-discounted basket of ten best buys, the group called on the food formula industry to stop extracting massive profits from the poorest mothers, whose own malnutrition makes breastfeeding difficult. Given the high cost of infant formula, desperate mothers water down the milk to make it stretch further, which means that their babies don’t get enough protein and vitamins. It also called on government to ensure that every province has an effective programme in place to identify children at high risk and to provide nutritional supplementation to children failing to thrive.

The group undertook to monitor food prices actively and to challenge the food industry to make the third of young children who live below the food poverty line their responsibility too. “We are heartened that NEDLAC has tasked a multi-sectoral committee to review the viability of proposal to double-discount ten best buy foods”, says Dr David Harrison, CEO of the DG Murray Trust. “No sector of society – not government, not labour, not civil society nor industry – should be able to say that substantive proposals to feed South Africa’s children are too difficult, without putting a better option on the table.”

Can We Predict the Severity of Food Allergies Using Genetics?

Photo by Sangharsh Lohakare on Unsplash

Researchers have discovered that a genetic biomarker may be able to help predict the severity of food allergy reactions. Currently there is no reliable or readily available clinical biomarker that accurately distinguishes patients with food allergies who are at risk for severe life-threatening reactions versus more mild symptoms. The researchers reported their findings in the Journal of Allergy and Clinical Immunology.

The researchers, led by Ann & Robert H. Lurie Children’s Hospital of Chicago, found that the presence of an enzyme isoform called α-tryptase, which is encoded by the TPSAB1 gene, correlates with increased prevalence of anaphylaxis or severe reaction to food as compared to subjects without any α-tryptase.

“Determining whether or not a patient with food allergies has α-tryptase can easily be done in clinical practice using a commercially available test to perform genetic sequencing from cheek swabs,” said lead author Abigail Lang, MD, MSc, attending physician and researcher at Lurie Children’s and Assistant Professor of Pediatrics at Northwestern University Feinberg School of Medicine. “If the biomarker is detected, this may help us understand that the child is at a higher risk for a severe reaction or anaphylaxis from their food allergy and should use their epinephrine auto-injector if exposed to the allergen. Our findings also open the door to developing an entirely new treatment strategy for food allergies that would target or block α-tryptase. This is an exciting first step and more research is needed.”

Tryptase is found mainly in mast cells, which become activated during allergic reactions. Increased TPSAB1 copy number which leads to increased α-tryptase is already known to be associated with severe reactions in adults with Hymenoptera venom allergy (or anaphylaxis following a bee sting).

Dr Lang’s study included 119 participants who underwent TPSAB1 genotyping, 82 from an observational food allergy cohort at the National Institute of Allergy and Infectious Diseases (NIAID) and 37 from a cohort of children who reacted to peanut oral food challenge at Lurie Children’s.

“We need to validate our preliminary findings in a much larger study, but these initial results are promising,” says Dr Lang. “We also still need a better understanding of why and how α-tryptase makes food allergy reactions more severe in order to pursue this avenue for potential treatment.”

Source: Ann & Robert H. Lurie Children’s Hospital of Chicago

Newly Discovered Bone Stem Cell Drives Premature Skull Fusion

Photo by Mathew Schwartz on Unsplash

Craniosynostosis, the premature fusion of the top of the skull in infants, is caused by an abnormal excess of a previously unknown type of bone-forming stem cell, according to a preclinical study published in Nature.

Occurring in one in 2500 babies, craniosynostosis arises from one of several possible gene mutations. By constricting brain growth, it can lead to abnormal brain development if not corrected surgically. In complex cases, multiple surgeries are needed.

Led by researchers at and led by researchers at Weill Cornell Medicine, the team focused on what happens in the skull of mice with one of the most common mutations found in human craniosynostosis. They found that the mutation drives premature skull fusion by inducing the abnormal proliferation of a type of bone-making stem cell, the DDR2+ stem cell, that had never been described before.

“We can now start to think about treating craniosynostosis not just with surgery but also by blocking this abnormal stem cell activity,” said study co-senior author Dr Matt Greenblatt, an associate professor of pathology and laboratory medicine at Weill Cornell Medicine and a pathologist at NewYork-Presbyterian/Weill Cornell Medical Center.

Histology image with stem cells labeled in red and skull region in green

A new stem cell driving disorders of premature skull fusion was transplanted (red), showing that it makes the cartilage seen at sites of skull fusion (green). Credit: Greenblatt lab.

In a study published in Nature in 2018, Dr Greenblatt, study co-senior author Dr Shawon Debnath and their colleagues, described the discovery of a type of bone-forming stem cell they called the CTSK+ stem cell. Because this type of cell is present in the top of the skull, or “calvarium,” in mice, they suspected that it has a role in causing craniosynostosis.

For the new study, they knocked out genes associated with craniosynostosis in CSTK+ stem cells in mice. They expected that the gene deletion somehow would induce these calvarial stem cells to go into bone-making overdrive. This new bone would fuse the flexible, fibrous material called sutures in the skull that normally allow it to expand in infants.

“We were surprised to find that, instead of the mutation in CTSK+ stem cells leading to these stem cells being activated to fuse the bony plates in the skull as we expected, mutations in the CTSK+ stem cells instead led to the depletion of these stem cells at the sutures – and the greater the depletion, the more complete the fusion of the sutures,” Dr Debnath said.

The unexpected finding led the team to hypothesise that another type of bone-forming stem cell was driving the abnormal suture fusion. After further experiments, and a detailed analysis of the cells present at fusing sutures, they identified the culprit: the DDR2+ stem cell, whose daughter cells make bone using a different process than that utilised by CTSK+ cells.

The team found that CTSK+ stem cells normally suppress the production of the DDR2+ stem cells. But the craniosynostosis gene mutation causes the CTSK+ stem cells to die off, allowing the DDR2+ cells to proliferate abnormally.

Collaborating with other researchers, they found the human versions of DDR2+ stem cells and CTSK+ stem cells in calvarial samples from craniosynostosis surgeries—underscoring the likely clinical relevance of their findings in mice.

The findings suggest that inappropriate DDR2+ stem cell proliferation in the calvarium, in infants with craniosynostosis-linked gene mutations, could be treated by suppressing this stem cell population, through mimicking the methods that CTSK+ stem cells normally use to prevent expansion of DDR2+stem cells. The researchers found that the CTSK+ stem cells achieve this suppression by secreting a growth factor protein called IGF-1, and possibly other regulatory proteins.

“We observed that we could partly prevent calvarial fusion by injecting IGF-1 over the calvarium,” said study first author Dr Seoyeon Bok, a postdoctoral researcher in the Greenblatt laboratory.

“I can imagine DDR2+ stem cell-suppressing drug treatments being used along with surgical management, essentially to limit the number of surgeries needed or enhance outcomes,” Dr. Greenblatt said.

In addition to treatment-oriented research, he and his colleagues now are looking for other bone-forming stem cell populations in the skull.

“This work has uncovered much more complexity in the skull than we ever imagined, and we suspect the complexity doesn’t end with these two stem cell types,” Dr Greenblatt said.

Source: Weill Cornell Medicine

Almonds Help Weight Loss and Improve Cardiometabolic Health

Photo by Pavel Kalenik on Unsplash

Diets often recommend avoiding nuts as they contain a large amount of fat even though they are high in protein and fibre. Now, a large study published in the journal Obesity demonstrated that including almonds in an energy restricted diet not only helped participants to lose weight, but also improved their cardiometabolic health.

Examining the effects of energy restricted diets supplemented with Californian almonds or with carbohydrate- rich snacks, researchers found that both diets successfully reduced body weight by about 7kg.

Globally, more than 1.9 billion adults are overweight (650 million with obesity). Two in three people (approximately 12.5 million adults) are overweight or have obesity, as do one in every two South Africans.

UniSA researcher Dr Sharayah Carter says the study demonstrates how nuts can support a healthy diet for weight management and cardiometabolic health.

“Nuts, like almonds, are a great snack. They’re high in protein, fibre, and packed with vitamins and minerals, but they also have a high fat content which people can associate with increased body weight,” Dr Carter says.

“Nuts contain unsaturated fats – or healthy fats – which can improve blood cholesterol levels, ease inflammation, and contribute to a healthy heart.

“In this study we examined the effects of an almond-supplemented diet with a nut-free diet to identify any influence on weight and cardiometabolic outcomes.

“Both the nut and nut free diets resulted in approximately 9.3% reduction in body weight over the trial.

“Yet the almond-supplemented diets also demonstrated statistically significant changes in some highly atherogenic lipoprotein subfractions, which may lead to improved cardiometabolic health in the longer term.

“Additionally, nuts have the added benefit of making you feel fuller for longer, which is always a pro when you’re trying to manage your weight.”

The study, funded by the Almond Board of California, had 106 participants complete a 9-month eating program (a three-month energy-restricted diet for weight loss in Phase 1, followed by Phase 2, a six-month energy-controlled diet for weight maintenance). In both phases, 15% of participants’ energy intake comprised unsalted whole almonds with skins (for the nut diet) or 15% carbohydrate-rich snacks – such as rice crackers or baked cereal bars (for the nut-free diet).

Reductions occurred in fasting glucose (−0.2mmol/L), insulin (−8.1pmol/L), blood pressure (−4.9 mmHg systolic, −5.0mmHg diastolic), total cholesterol (−0.3 mmol/L), low-density lipoprotein (LDL) (−0.2mmol/L), very low-density lipoprotein (−0.1mmol/L), and triglycerides (−0.3mmol/L), and high-density lipoprotein increased (0.1mmol/L) by the end of Phase 2 in both groups.

Source: University of South Australia

Medical Gaslighting: When Conditions Turn out not to be ‘All in the Mind’

By Caitjan Gainty, Senior Lecturer in the History of Science, Technology and Medicine, King’s College London

Photo by cottonbro studio

Gaslight, a psychological thriller starring Ingrid Bergman, was a box-office hit when it was released in 1944, but its time in the limelight could have ended there. However, the ruse employed by its villain gave the work remarkable staying power.

Set in 1880s London, the story plays out in the upper-middle-class, gas-lit home of Gregory and Paula Anton. Gregory is intent on making Paula think she is going insane so that he can have her committed to a mental institution and claim her inheritance. He attempts to convince her that the gas lighting in their house, which the audience can see is flickering, is not really flickering. What her senses tell her is a lie – a sign of her steady descent into madness.

Today, the term “gaslighting” is widely used to describe psychological manipulation, where a person is made to doubt their perception of reality. Politicians are accused of it, as are celebrities. The term also used in discussions about health.

Medical gaslighting refers to cases in which a healthcare practitioner imposes a pattern of questions, testing or diagnosis that runs counter or tangential to the history or symptoms the patient is describing or experiencing.

There is usually a clear power imbalance at play. More often than not, gaslit patients are women, members of the LGBTQ community, people of colour and older adults.

It is a painful reminder that medicine does not occupy a rarefied space apart from society and history. Those who are socially, culturally, politically or economically marginalised don’t find that this experience suddenly changes when they walk through the clinic door.

In many ways, the term gaslighting is an apt fit for medical settings, especially when it comes to the common refrain: “It’s all in your head.”

One of the best-known examples relates to heart disease, where a woman’s symptoms are twice as likely as a man’s to be simply written off as mental illness. This missed diagnosis is often explained by the fact that women’s heart attack symptoms are “strange and unpredictable” (compared with a man’s “normal” symptoms). However, that excuse doesn’t hold water – there is a large overlap in heart attack symptoms between the sexes.

Elsewhere, social media and news reports are full of egregious examples of women being medically gaslit. There are those whose cancer reached an advanced stage before they could get a doctor to take them seriously. And those whose lives were imperilled by a doctor who dismissed their pain as anxiety, as postpartum depression, as not nearly as bad as they think it is.

Examples of medical gaslighting also accrue around chronic but poorly understood diseases. In recent years, there’s been the medical community’s slow and halting recognition of long COVID. Before that, it was long Lyme disease or chronic fatigue syndrome, as Jennifer Brea’s 2017 documentary Unrest movingly shows.

Algorithmically out of whack

Yet medical gaslighting is a far more complex creature than gaslighting in other contexts. While Gregory’s attempts to gaslight his wife were malicious and intentional, medical gaslighting quite often overlaps with a more basic problem in medicine: misdiagnosis.

In many cases, misdiagnosis occurs not because an individual doctor is being malicious or even intentionally – though perhaps unconsciously – prejudiced, but because the symptoms they observe in the patient before them are “algorithmically” out of whack with the standard set of symptoms and characteristics they have been taught to look for and associate with different diseases.

Since these algorithms were explicitly built around heterosexual white men, it makes sense that the vast majority of those who have experienced medical gaslighting or misdiagnosis hail from beyond this extremely narrow band of the population. But even at a more basic level, individuals are simply not standard. Human bodies don’t conform as closely to the algorithms as medicine would ideally like them to.

“The bottom line,” as one doctor put it, “is that diagnosis is hard.” It does not help that research into diagnosis is never as well-funded as research into treatment.

That’s not to say there aren’t any covert (or overt) Gregory Antons out there in medical practice, of course. But it does mean that if we want to address medical gaslighting, the answer is probably not as simple as training medical professionals to be more sensitive to their patient’s descriptions of their symptoms.

Indeed, the very foundation of modern medicine agitates against this kind of attention to individual symptoms, asking medical professionals instead to measure patients against a set of standards – to think statistically as they make their diagnostic decisions.

Until a much greater part of society is included in that statistical reckoning, we can expect medical gaslighting to remain a part of our medical experiences. And even if or when that happens, our system will still be one that grapples with the difficult task of matching the emphatically square holes of symptom and diagnostic categories with the differently shaped realities of individual symptoms and illness experiences.

The Conversation

Republished from The Conversation under a Creative Commons License. Read the original article.

Med Student’s Stellar Academic Record Paves Way for Elective Abroad

By NIÉMAH DAVIDS

Photo: Supplied

Fifth-year Bachelor of Medicine and Surgery (MBChB) student Moses Malebana’s stellar academic record has paved the way for a special international elective at the University of Graz – making him the maiden recipient of this golden opportunity – and galvanising ties between the University of Cape Town’s (UCT) Department of Medicine and the Medical University of Graz (Med Uni Graz) in Austria.

Malebana will depart in November and return to UCT’s Faculty of Health Sciences in January 2024. And with just a few short weeks before he boards his flight, he said he is excited for what awaits, and plans to absorb every detail of the experience.

“I plan on becoming a giant sponge while there. I am excited and feel privileged that I’ve been selected for this opportunity. I look forward to learning all there is to learn and flying UCT’s and the Department of Medicine’s flag[s] high at Med Uni Graz,” he said.

Tough grind

But this opportunity didn’t just fall into his lap. To be considered for the elective abroad, the application and selection criteria was clear – the candidate needed to prove an unmatched academic record. Each applicant was also tasked with supplying a motivational letter that highlighted why they felt they deserved the opportunity. It’s safe to say that Malebana passed the test with flying colours.

He said he used the motivational letter to reflect and relay personal anecdotes that focused on the sacrifices that led him to study medicine at UCT, and he enjoyed documenting his story.

“I remember seeing the email and thinking that this is my opportunity to reflect on my journey and to just tell my story. It was interesting because I don’t often reflect on things. But when I started, I realised that my whole life up to this point was about making the most of the opportunities that have come my way,” he said.

First-class motivation

In his motivation, Malebana touched on the events in his life that moulded him into the man he is today. And the list is endless – walking for more than an hour to and from school every day in rural Limpopo, contending with a lack of in-school resources, and a shortage of skilled teachers were just some of the challenges he experienced. These hurdles, he added, provided the impetus he needed to give his high school education and his medical studies his all.

“All of this taught me resilience; it motivated me to work even harder to reap the rewards later in life. I worked very hard to get to UCT, and now that I’m here, I’m working even harder to attain success in my degree,” he said. “I don’t take any opportunities for granted. I’m humbled that I’ve been chosen to represent the faculty and the university in Austria,” he said.

As he prepares for his big trip, Malebana said he’s looking forward to understanding the Austrian health system and gaining some valuable insight into how medical doctors practice medicine in that country and how it compares to South Africa.

A whole new world

The elective will consist of several rotations in different areas of internal medicine and Malebana will be based at a teaching hospital affiliated to Med Uni Graz. He said he is most excited about his oncology rotations after developing a keen interest in this area of medicine.

“I have always enjoyed studying and learning more about the management of different cancers. So, I really look forward to seeing how things are done in Austria. I know each day will be filled with something new to learn, whether it’s in oncology or a different area of medicine. I’m eager to get going,” he said.

But over and above the work, Malebana said he is thrilled to have the opportunity to travel outside of South Africa’s borders for the first time, to experience diverse cultures and cuisines, gain insight into a new way of life, and build new, lasting friendships.

“It’s going to be an adventure, that’s for sure – one that I’ve already embraced with my arms wide open. I’m grateful that it has come my way,” he said.

Republished from the University of Cape Town under a Creative Commons Attribution-NoDerivatives 4.0 International Licence.

Source: University of Cape Town

Atopic Dermatitis Increases Risk of New-onset IBD

Source: CC0

Adults with atopic dermatitis (AD) have a 34% increased risk of developing new-onset inflammatory bowel disease (IBD) compared to those without the skin condition, according to a new recently published in JAMA Dermatology. The study also shows for children, the risk increase is 44%. Additionally, as the severity of AD increased, the risk of developing IBD rose.

These findings clear up ambiguity from previous research, especially among populations of children and between the different types of IBD: ulcerative colitis and Crohn’s disease. While IBD is located in the gut and AD affects the skin, both diseases are driven by the immune system and are categorised by severe inflammation. Insight offered from this study from the Perelman School of Medicine at the University of Pennsylvania could lead to new treatments for both IBD and AD.

“It is imperative for clinicians to understand atopic dermatitis and the trajectory of our patients with it in order to provide the best standard of care,” said senior author Joel M Gelfand, MD, dermatology professor at Penn. “There are new and better treatments for AD today, and there will likely continue to be more. But providers have to understand how those treatments could impact other autoimmune diseases. For patients with AD and another autoimmune disease, some currently available medications can exacerbate symptoms of their other disease or can help treat two immune diseases at the same time.”

While this is not the first study to explore AD and IBD, its size, with one million adult and child participants with AD drawn from a UK medical database, and its separation between ulcerative colitis and Crohn’s disease advances previous research.

When looking at ulcerative colitis and Crohn’s disease separately, AD was not linked to higher ulcerative colitis in children unless the kids had severe AD. Children with AD, however, had a 54–97% increased relative risk of Crohn’s disease, and among children with severe AD, their risk was roughly five times higher. Results among adults were more straightforward. Adults with AD had a 32% increased relative risk of ulcerative colitis and a 36% increased relative risk of Crohn’s disease. Gelfand notes that the absolute extra risk of developing IBD in individuals with AD is still quite small, but the association is meaningful in better understanding health outcomes in AD. Moreover, since millions of people have AD, this small increase in risk spread among many people is likely important from a public health perspective.

Although Penn researchers did not look at the root cause of IBD linked to AD, they have strong hypotheses about the links.

“AD and IBD can cause changes in the microbiome, chronic inflammation, and the dysfunction in the skin and gut barrier respectively,” said Gelfand, who is also the director of the Center for Clinical Sciences in Dermatology at Penn. “There are also specific cytokines, certain kinds of proteins, that play a role in immune system activity and that seem to be related to AD and IBD. For example, we think dysfunction of types of T cells common to both AD and IBD, could be the culprits. Those need to be explored further to uncover both what’s happening at a microscopic level and what proteins or structures could be targeted to treat one or both conditions.”

As a leading expert on psoriasis, a disease known to be tied to IBD genetically, Gelfand is well aware of how closely skin health can affect other parts of the body. He and his colleagues are also studying AD’s relationship to infections, neurologic and psychiatric disorders, and cardiovascular disease.

“Investigating the relationship between skin diseases and other diseases doesn’t just offer new insight into how these diseases can affect a patient with both, but these studies are especially powerful because they also highlight unique characteristics of each disease and how they behave individually,” Gelfand shared.

Source: University of Pennsylvania School of Medicine

New Online Tool for Hard-to-identify Breast Cancer

A new diagnostic scoring system, developed by renowned breast cancer experts, is now available as an easy-to-use online tool through Susan G. Komen®, the world’s leading breast cancer organisation. This tool will help health care providers recognise and effectively diagnose a rare and aggressive breast cancer, inflammatory breast cancer.

The new Inflammatory Breast Cancer (IBC) Scoring System online tool is available at https://www.komen.org/ibc and may help to increase diagnostic accuracy, predict outcomes, guide treatment decisions and inclusion in clinical trials.  

Before the development of the proposed IBC Scoring System, IBC lacked a formal, objective medical definition and diagnosis was often delayed, misdiagnosed or missed altogether. The new online tool is intended to provide the proposed IBC diagnostic criteria in a convenient tool to help more quickly and effectively recognize IBC in the clinic. 

IBC often develops rapidly and can easily be confused with a breast infection because of symptoms such as redness and swelling, and the frequent lack of a breast lump. IBC can be hard to see on a mammogram as it may only show up as skin thickening. This results in approximately 30% of IBC patients being first diagnosed at stage IV (de novo metastatic breast cancer), meaning their breast cancer has already spread to other parts of the body. 

“IBC has historically been difficult to diagnose and no changes to diagnostic approach have been made since the 1960s,” said Dr Reshma Jagsi, Komen Scholar and Lawrence W. Davis Professor and Chair of the Department of Radiation Oncology at Emory University School of Medicine. “This first-of-its-kind tool may help health care providers recognise and diagnose IBC and may also enable researchers to study the biology of IBC, making discoveries to advance progress toward personalized care for all IBC patients in the future.”

The proposed IBC Scoring System was developed through a collaborative effort between Susan G. Komen, the Inflammatory Breast Cancer Research Foundation (IBCRF) and the Milburn Foundation, which brought together a team of leading breast cancer experts including clinicians, researchers, and IBC patients.  It is now being validated by a team of researchers at two of the largest IBC centres in the world led by Dr Filipa Lynce at Dana-Farber Cancer Institute, and Dr Wendy A. Woodward at MD Anderson Cancer Center. This work validating the scoring system is supported by a grant awarded by Susan G. Komen and is part of the groups’ collaborative efforts to advance IBC research and care through innovative approaches.

“I encourage my fellow health providers to use the IBC Scoring System when addressing patients having concerns about changes in their breast, such as swelling and redness. Using this tool may accelerate the diagnosis of IBC and start treatment at an earlier stage for those who have a confirmed diagnosis of invasive breast cancer,” said Dr Lynce.

“The creation of this tool reflects the deep commitment of Komen, the Inflammatory Breast Cancer Research Foundation and the Milburn Foundation to accelerate progress in detecting and treating inflammatory breast cancer. With the help of leading scientists and medical providers across the US, we will help thousands of patients receive an earlier and more accurate diagnosis of this aggressive disease and get the high-quality care they need to survive,” said Senior Vice President of Mission for Susan G. Komen, Victoria Wolodzko Smart. “I have no doubt this tool will improve outcomes for all IBC patients in the future.”

Source: EurekAlert!

Gastric Reflux without Oesophagitis does not Increase Cancer Risk

Source: Pixabay cc0

Reflux disease manifests as acid regurgitation and heartburn and is a known risk factor for oesophageal cancer. However, a new study published in The BMJ by researchers at Karolinska Institutet now reports that the majority of patients do not have a higher risk of cancer. A large-scale study from three Nordic countries shows that the cancer risk is only elevated in patients whom gastroscopy reveals to have changes in the oesophageal mucosa.

“This is a gratifying result since reflux disease is a very common condition and most patients are found to have a completely normal mucus membrane on gastroscopic examination,” says the study’s first author Dag Holmberg, Karolinska Institutet researcher and resident doctor of surgery at Karolinska University Hospital in Sweden.

In reflux disease, acidic stomach contents leak into the oesophagus. This can sometimes cause oesophagitis, inflammation in the oesophageal mucus membrane, which is diagnosed via gastroscopy. It is common knowledge that reflux disease increases the risk of oesophageal cancer, but what the cancer risk is for patients with normal mucosa has remained unknown.

Symptoms generally persist

The symptoms of reflux disease can come and go but generally persist, which means that many patients frequently seek medical attention and often undergo repeated gastroscopies to detect mucosal lesions or prodromal cancer.

“Our study suggests that these repeated gastroscopies are probably unnecessary for people with reflux disease who have a normal oesophageal mucosa,” says Dr Holmberg. “These findings should be reassuring for this large patient group and can guide GPs who often treat them.”

The present study is based on national health data registries in Sweden, Denmark and Finland, and included over 285 000 individuals with reflux disease and no gastroscopic evidence of oesophagitis. The patients were followed for up to 31 years and the researchers registered all cases of oesophageal cancer.

The cancer risk was then compared with that for individuals from the general population matched by age and sex and at the same period in the three countries. No increased risk of oesophageal cancer was observed in patients with reflux disease and a normal mucus membrane.

Increased risk in patients with oesophagitis

By way of comparison, the researchers also analysed the cancer risk in over 200 000 individuals with reflux disease and oesophagitis. These people were at a clearly increased relative risk of developing oesophageal cancer.

“We now intend to examine what factors other than oesophagitis can be linked to tumour growth in people with reflux disease,” says the study’s last author Jesper Lagergren, professor of surgery at Karolinska Institutet.

Source: Karolinska Institutet

Prescribed Oestrogen and Factor V Leiden Mutation More than Double Blood Clot Risk

Source: Wikimedia CC0

New research from Queen Mary University of London, published in iScience, shows an increased risk of blood clots in women who have any combination of Factor V Leiden gene mutation, oestrogen use, or common medical conditions – specifically: obesity, high blood pressure, high cholesterol, and kidney disease.

Women with the Factor V Leiden (FVL) gene mutation who had been prescribed oestrogen had more than double the risk of blood clotting compared to women who did not have this mutation. And almost 20% of the women who carry FVL, were prescribed oestrogen and had two medical conditions suffered a blood clot. The presence of the FVL gene made a substantial difference to risk, with only around 5% of women taking oestrogen and having two conditions suffering a clotting event.

The study also found that a woman with obesity, hypertension, high cholesterol, and kidney disease (not uncommon in a clinical setting) had an 8 times greater chance of blood clotting compared to a woman with none of these conditions. This amounted to roughly one in every six women with the four conditions in the study suffering a blood clot. Three medical conditions meant a five times greater chance of blood clotting, and two medical conditions meant a two times greater chance.

One in three women who had the FVL gene mutation and three of the medical conditions examined also suffered a blood clotting event.

The researchers examined the health data of 20 048 British-Bangladeshi and British-Pakistani women from the Genes & Health project, a large community-based genetics study. While oestrogen use, FVL, and common medical conditions are all known risk factors of blood clots, studies have not looked at the combined risk of these factors together on blood clot prevalence.

Women are commonly prescribed oestrogen, both through oral contraception containing the hormone and as part of post-menopausal hormone replacement therapy.

Professor Sir Mark Caulfield, from Queen Mary University of London, said: “Our study gives a more complete picture of blood clotting in Bangladeshi and Pakistani communities who have previously been underrepresented in research.

“Genetic testing of the FVL gene mutation could give a clearer sense of someone’s personalised risk of this potentially fatal complication if they were prescribed oestrogen.”

Source: Queen Mary University London