Day: September 20, 2023

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

‘All Work and no Play’ Really does Make ‘Jack a Dull Boy’

Photo by Tim Gouw on Unsplash

A Journal of Personality-published study across three countries discovered people who prioritised achievement over enjoyment were less happy on the next day. Whereas those who aimed for freedom said they had a 13% increase in well-being, recording better sleep quality and life satisfaction.

And participants who tried to relax and follow their hobbies recorded an average well-being boost of 8% and a 10% drop in stress and anxiety.

Dr Paul Hanel from the University of Essex worked with colleagues at the University of Bath on the study, which explored for the first time how following various values impacts happiness. “We all know the old saying ‘All work and no play makes Jack a dull boy’ and this study shows it might actually be true,” Dr Hanel said. “There is no benefit to well-being in prioritising achievement over fun and autonomy.

“This research shows that there are real benefits to having a balanced life and taking time to focus on enjoying ourselves and following individual goals. Ironically by doing this, people could in fact be more successful as they will be more relaxed, happier and satisfied.”

The study, called Value Fulfilment and Well-being: Clarifying Directions Over Time, examined more than 180 people in India, Turkey and the UK.

They filled in a diary across nine days and recorded how following different values affected them.

Interestingly all nationalities reported the same results with the following of ‘hedonism’ and ‘self-direction’ values leading to increased happiness.

‘Achievement’ and ‘conformity’ values had no impact on happiness whatsoever.

However, the researchers believe achievement could impact on happiness when linked to job satisfaction or the amount of days worked.

Professor Greg Maio, University of Bath, said: “This multination project was an exciting foray into questions about how values affect well-being in day-to-day life.

“People often spend most of their days working hard for their daily income, studies, and careers.

“Against this backdrop, where achievement-oriented values have ring-fenced a great portion of our time, we found that it helps to value freedom and other values just enough to bring in balance and recovery.

“In the future, it will be interesting to consider how this pattern interacts with relevant traits, such as conscientiousness, and situational contexts, such as type of employment.”

It is hoped the research will now influence mental health provision and influence therapeutic give to clients.

Dr Hanel added: “Our research further shows that it might be more important to focus on increasing happiness rather than reducing anxiety and stress, which is of course also important, just not as much.”

Source: University of Essex

Genetics can Make Paediatric Medicines Taste Sweeter

Photo by cottonbro studio

Paediatric medicines often come in a sweetened liquid form for compliance in ingesting it, but if it’s too palatable, a child may empty an entire bottle and poison themselves. But children can perceive taste in different ways. A new study published in the International Journal of Molecular Sciences uncovers genetic variations in how sweetness of medicine is perceived, with adult participants of African descent finding it than those of European descent.

A multidisciplinary research group specialising in paediatrics, genetics, and psychophysics, co-led by Julie A. Mennella, PhD, Principal Investigator at the Monell Chemical Senses Center, has identified wide variation in the sensory perception of a paediatric formulation of ibuprofen. Some were tied to genetic ancestry, and some were not. These findings indicate that a range of factors come into play in determining how a medicine tastes to an individual. Their work is the first in a series of studies funded by the National Institutes of Health to look at variation in the taste of medicines.

“Taste is personal and determining how individuals differ and why is critical to understanding medication adherence and personal risks,” said Mennella. Bitter taste and irritating sensations in the throat are the top reasons for non-compliance, as a child (or adult) is less likely to ingest a medicine that is unpleasant (or tastes bad). However, if a child finds the medicine bottle uncapped and finds it tastes sweet like candy, they may ingest too much. Discovering how individuals differ in sensory perception is especially key when it comes to liquid ibuprofen, which accounts for many unintentional poison exposures among children younger than six years old in the US, according to the US Poison Centers.

“Sweetening medicines like ibuprofen is a delicate balance between having it taste good enough that kids take it, but bitter enough that, should they get unguarded access to it, it’s irritating enough that they stop drinking it and don’t poison themselves,” said Mennella. “We found genetic markers, both ancestry-related and independent of it, that could predict if someone would find a medication irritating or pleasantly sweet. If we get to the point of tailor-making medications in the future, knowing these associations could help us design taste specifically for each child in the not-so-distant future.”

The study included 154 adult panellists from Philadelphia, who represented the diversity of their city. According to a genome-wide association study, 63 had African ancestry, 51 European, 13 South Asian, seven East Asian, and seven American. They underwent training in sensory methods and then rated the sweetness, irritation, bitterness, and palatability of a paediatric formulation of a berry-flavoured ibuprofen after swallowing, and also after just tasting it without swallowing.

Researchers found that panellists of African genetic ancestry had fewer chemaesthetic sensations such as tingling or an urge to cough, rated the medicine as tasting sweeter and more palatable than those of European genetic ancestry. Researchers also found a novel association between the TRPA1rs1198875 genetic variation and tingling sensations, independent of ancestry. This is significant as TRPA1 is a family of neuron receptors that are involved in sensory neural response to a variety of chemical irritants found in foodstuff and other medicines.

Discovering both an ancestry-related link and non-ancestry-related genetic variation to taste and irritation perception shows that who perceives a medicine as palatable or not is a complicated picture and must consider a variety of factors.

This first study was conducted with adults because the sensory measures were complex and included several hour-long test sessions. That does not mean future tests should not include children, Mennella said, adding that this is just the first in a line of studies on the taste of paediatric medicines and methods need to be developed to measure sensory irritation in children. “This is a small study, but it is the first step in showing how research on diverse populations is needed to be able to unravel the genetic, cultural, dietary, and developmental paths that underlie medicine adherence and also risk for poisoning,” said Mennella. “It’s looking at both sides of the same, very important coin.”

Findings from this research will affect how sensory tests can be designed in the future. Since participants did both swallow and sip-and-spit tests, the team was able to determine that just tasting medicine allowed predictions and perceptions after swallowing, which could simplify future studies in different age groups. Other studies as part of this National Institutes of Health grant are ongoing, including determining the variation and acceptance of medicines in children.

Source: Monell Chemical Senses Center