American Indian/Alaska Native patients less likely to undergo breast reconstruction

Disparity in reconstruction persists for AI/AN women, reports Plastic and Reconstructive Surgery®

Peer-Reviewed Publication

WOLTERS KLUWER HEALTH

Waltham — July 2, 2024 — American Indian/Alaska Native (AI/AN) women with breast cancer have consistently lower rates of breast reconstruction after mastectomy compared to non-Hispanic White women, reports a paper in the July issue of Plastic and Reconstructive Surgery®, the official medical journal of the American Society of Plastic Surgeons (ASPS). The journal is published in the Lippincott portfolio by Wolters Kluwer. 

"Despite an upward trend in reconstruction, AI/AN women continue to be less likely to undergo breast reconstruction," comments Jane Hui, MD, MS, of University of Minnesota, Minneapolis. "While our findings point to some possible approaches to reducing this disparity, it will be essential to also determine Native women's opinions related to breast reconstruction." 

Focus on factors affecting breast reconstruction in AI/AN women 

Using data from the National Cancer Database, the researchers identified 1,980 AI/AN women and 414,036 non-Hispanic White women who underwent mastectomy for breast cancer between 2004 and 2017. Annual breast reconstruction rates were compared between groups, along with factors associated with decisions about reconstruction. 

The two groups differed in some important characteristics. American Indian/Alaska Native women had higher rates of other medical diagnoses (comorbidity), 20% versus 12%; were more likely to have public health insurance, 49% versus 20%; and more likely to undergo single-breast (unilateral) mastectomy. 

Over the 13-year study period, breast reconstruction increased in both groups: from 13% to 47% for AI/AN women and from 29% to 62% from non-Hispanic White women. After adjustment for other factors, AI/AN women remained nearly one-half less likely to undergo reconstruction.  

Other factors associated with lower reconstruction rates included older age, earlier year of diagnosis, more advanced cancer, unilateral mastectomy, public insurance, and living in an area of lower educational attainment. Within the AI/AN group, reconstruction was more likely for younger women; those with more recent diagnosis, less-advanced cancer, and less comorbidity; and those living in urban areas or areas with a higher level of educational attainment. 

Insights for addressing breast reconstruction disparity in Native women 

Breast reconstruction after mastectomy has known benefits for some, including improved quality of life and body image. However, breast reconstruction is a personal decision – there is "no optimal proportion" of patients who should opt for reconstruction, Dr. Hui and colleagues note. 

American Indian/Alaska Native women face a wide range of health disparities and barriers to medical care, including elevated rates of chronic health conditions, later diagnosis and higher mortality from breast cancer. "Complicating the healthcare environment in which AI/AN receive medical care is chronic underfunding of the Indian Health Service (IHS), implicit bias against AI/AN, and fraught relationships between physicians and AI/AN patients," the researchers write. 

Their study offers insights into factors associated with the lower rate of breast reconstruction for AI/AN women with breast cancer. "Multidisciplinary efforts to improve care delivery to AI/AN women may continue to minimize disparities through earlier diagnosis and treatment," Dr. Hui and coauthors conclude. "Simultaneously, qualitative research into AI/AN perspectives on breast cancer care could improve shared decision-making between physicians and AI/AN patients, empowering AI/AN women to choose post-mastectomy reconstruction if they so desire." 

Read Article: Disparities in post-mastectomy reconstruction use among American Indian and Alaska Native women 

Wolters Kluwer provides trusted clinical technology and evidence-based solutions that engage clinicians, patients, researchers and students in effective decision-making and outcomes across healthcare. We support clinical effectiveness, learning and research, clinical surveillance and compliance, as well as data solutions. For more information about our solutions, visit https://www.wolterskluwer.com/en/health. 

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About Wolters Kluwer 

Wolters Kluwer (EURONEXT: WKL) is a global leader in information, software solutions and services for professionals in healthcare; tax and accounting; financial and corporate compliance; legal and regulatory; corporate performance and ESG. We help our customers make critical decisions every day by providing expert solutions that combine deep domain knowledge with technology and services. 

Wolters Kluwer reported 2023 annual revenues of €5.6 billion. The group serves customers in over 180 countries, maintains operations in over 40 countries, and employs approximately 21,400 people worldwide. The company is headquartered in Alphen aan den Rijn, the Netherlands.  

For more information, visit www.wolterskluwer.com, follow us on LinkedIn, Facebook, YouTube and Instagram. 

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JOURNAL

Plastic & Reconstructive Surgery

ARTICLE TITLE

Disparities in post-mastectomy reconstruction use among American Indian and Alaska Native women

 

Examination of trauma history questionnaire deepens understanding of vulnerable women

Studies of incarcerated women, perinatal women yield insights that can inform treatment

Peer-Reviewed Publication

CRIME AND JUSTICE RESEARCH ALLIANCE

Exposure to trauma is associated with many negative outcomes, especially for at-risk populations like incarcerated women and perinatal women. The Trauma History Questionnaire (THQ) is a common measure of exposure to trauma, but no published studies have validated the instrument with these two understudied groups. In a new study published in Women & Health, researchers at Idaho State University (ISU) explored the THQ to shed light on these groups.

            “Given the long-term physical and mental health risks associated with exposure to trauma, especially in vulnerable populations, valid measures of different types of trauma exposures are critical,” explains Shannon Lynch, professor of psychology at ISU, who coauthored the study. Lynch is an expert whose work is promoted by the NCJA Crime and Justice Research Alliance, which is funded by the National Criminal Justice Association.

            More than half of women in the United States will experience at least one traumatic event in their lives. Exposure to trauma is linked to rises in rates of depression, anxiety, substance use, social isolation, and chronic health problems, the effects of which are especially concerning for women experiencing incarceration or pregnancy. The high-risk life circumstances of these women may differentially affect the ways they experience and recover from traumatic events.

The THQ is frequently used to assess traumatic experiences in various populations. In this study, researchers sought to address the lack of studies on the instrument’s validity with incarcerated women and perinatal women. They analyzed two samples of incarcerated women (the Trauma Exposure and Treatment Needs Study and the Seeking Safety Study) and one sample of prenatal women, that is, women immediately before and after the birth of their child (the IDAHO Mom Study); all three studies were conducted in the northwestern United States.

In particular, the study examined the validity of constructs with other measures and indices of trauma, convergent validity with related constructs (i.e., depression, anxiety, somatic symptoms, social support), and the predictive validity of prenatal THQ scores with postnatal depression. The study also compared the incarcerated women with the perinatal women to identify unique interactions between gender and life circumstances in relation to trauma.

            The THQ performed roughly as expected with the perinatal and incarcerated samples and demonstrated sufficient psychometric properties for use in future research with these populations. It demonstrated a strong relation to a similar trauma measure (the Severity of Violence Against Women Scale) for both groups of women, as well as relations to relevant constructs of symptoms of depression, post-traumatic stress disorder, and psychological distress in these samples. Incarcerated women had significantly higher THQ scores than perinatal women, and prenatal women’s THQ scores predicted later postpartum symptoms of depression.

            Based on these findings, the authors suggest that while exposure to trauma may differ within subgroups of understudied female populations, robust connections exist between trauma and mental health outcomes across life circumstances.

In light of the elevated rates of exposure to trauma in the two groups of incarcerated women, as well as the strong associations between trauma and negative mental health outcomes, they recommend increased attention to mental health care in women’s prisons. And in light of the relation between trauma and depression in the perinatal group and research on the negative effects of trauma and depression on maternal and fetal well-being, they recommend increased mental health care and support for women exposed to trauma in the perinatal period.

            Among the study’s limitations, the authors note that each study used different measures, which limits direct comparison among samples. In addition, data for the studies were collected at different points in time. Finally, all three studies were conducted in the same region, which limits the generalizability of the results to other demographically distinct regions.

“Our findings increase our understanding of the kinds of trauma experienced by incarcerated women and perinatal women, and they can help inform the utility of trauma assessments for these vulnerable groups,” says Lillian Bengtson, a doctoral candidate in clinical psychology at ISU, who led the study. “Accurately measuring trauma in these groups will allow researchers and practitioners to better understand risk factors and long-term outcomes, and provide a focus for prevention and treatment involving vulnerable populations of women.”

The study was supported by the Idaho State University (ISU) Department of Psychology, ISU College of Arts & Letters, and ISU Office of Research.

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JOURNAL

Women & Health

DOI

10.1080/03630242.2024.2344503 

ARTICLE TITLE

Trauma History Questionnaire: validation with novel samples of incarcerated women and perinatal women

 

Journal of Participatory Medicine announces new theme issue on Patient and Consumer Use of Artificial Intelligence for Health

JMIR PUBLICATIONS

 

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JOURNAL OF PARTICIPATORY MEDICINE ANNOUNCES NEW THEME ISSUE ON PATIENT AND CONSUMER USE OF ARTIFICIAL INTELLIGENCE FOR HEALTH
 

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CREDIT: JMIR PUBLICATIONS

(Toronto, July 2, 2024) JMIR Publications invites submissions to a new theme issue titled “Patient and Consumer Use of Artificial Intelligence for Health” in its premier open access journal Journal of Participatory Medicine indexed in PubMed, SCOPUS, Sherpa Romeo, and DOAJ. 

This theme issue will explore the use of AI for health (AIH) from the perspectives of patients and the public. The journal is seeking papers that examine (a) the experience and impact of patients and health consumers using AI applications, and (b) the involvement of patients, caregivers, and the public in the co-design and development of AIH.
  
For this theme issue, the journal welcomes original research, reviews, case studies, and viewpoints on insights on patient and public use of AIH. We seek articles that discuss benefits and risks of consumer AIH for self-care, innovation opportunities, and research gaps in the use of AIH by patients and the public. Articles jointly authored with patient advocates are especially welcome. 

Theme issue topics include but are not limited to the following:
Research on the experience, value, and impact of patients and consumers actively using AI tools
●      Explore how patients using generative AI, such as ChatGPT, learn about health issues, understand their health data, or consequently engage in self-care and change behavior.
●      Examine, from the health consumer perspective, how AI chatbots, virtual assistants, or other tools answer queries, assess symptoms, or communicate with health professionals.
●      Understand how AI-powered devices and applications that collect and analyze data are used by patients and how they can impact behavior and health outcomes.
 
Co-production and Co-design of AI tools with patients, health consumers, and the public
●      Meaningful involvement or consultation of patients and caregivers with lived experience, in the design, development or deployment of AI applications for specific health issues.
●      Meaningful involvement or consultation of patients and caregivers with lived experience, in the research of health-related AI applications.
●      Democratic deliberation of the public to address key issues of health-related AI, such as privacy, security, ethics, data bias, governance, and the responsible use of personal health data.
 
Research on the clinical use of AI tools that interact directly with patients and/or caregivers
●      Examine, from the patient perspective, the use of clinician-derived AI tools that are directed at the patient and caregiver, such as sending AI-derived content to respond to patients’ secure emails.

All submissions will undergo a rigorous peer-review process, and accepted articles will be published in a theme issue (e-collection) titled “Patient and Consumer Use of Artificial Intelligence for Health.”

Read the full call for submissions to learn more. 

About JMIR Publications:
JMIR Publications, celebrating its 25th anniversary in 2024, is a leading open access digital health research publisher. As a pioneer in open access publishing, JMIR Publications is committed to driving innovation in scholarly communications, advancing digital health research, and promoting open science principles. Our portfolio features 35 open access, peer-reviewed journals dedicated to the dissemination of high-quality research in the field of digital health, including the Journal of Medical Internet Research, as well as cross-disciplinary journals such as JMIR Research Protocols and the new title JMIR XR & Spatial Computing. 

 

Barriers to care: transgender and gender-diverse peoples’ health care experiences

CANADIAN MEDICAL ASSOCIATION JOURNAL

Transgender, nonbinary, and gender-diverse people face barriers to accessing surgery and to the health system in general, describe authors in two new research papers published in CMAJ (Canadian Medical Association Journal).

In many areas of life, people who identify as transgender, nonbinary, and gender diverse experience discrimination even where there are laws to protect transgender human rights. Health systems also pose barriers for transgender, nonbinary, and gender-diverse people, who are more likely to delay obtaining medical care because of fear of discrimination and other factors.

In two research articles, authors describe the experiences of transgender, nonbinary, and gender-diverse people in accessing gender-affirming surgery. A related humanities article argues that gender self-determination is a medical right.

As there are few Canadian studies on the surgical experiences of people who self-identify as members of these populations, authors sought to understand the experience of transgender, nonbinary, and gender-diverse people when seeking gender-affirming care. Participants in the research studies reported barriers in accessing gender-affirming care, which also affected their general experiences with the health care system.

“The stress of negotiating presurgical bureaucracy often stood in sharp contrast to the positive feelings [participants] experienced when deciding to seek gender-affirming surgery,” writes Dr. Hilary MacCormick, an anesthesiologist in the Department of Women’s and Obstetric Anesthesia, IWK Health, and assistant professor at Dalhousie University, Halifax, Nova Scotia, with coauthors in one of the studies  https://www.cmaj.ca/lookup/doi/10.1503/cmaj.240061. “Participants described the need to self-advocate when interacting with health care professionals who had a lack of experience with or negative attitude toward [transgender or nonbinary] people.”

These barriers and marginalization can cause additional trauma in a situation where patients of any background might feel stress and anxiety because of surgery.

“Our data support the need for more in-depth and nuanced discussions surrounding shared decision-making, and consideration of potential effects of past traumas, instances of invalidation, or negative interactions within health care,” the authors conclude.

The findings of the study on the lived experiences of people seeking publicly funded penile-inversion vaginoplasty were similar. “Health care systems need to improve access to gender-affirmation surgery, reduce wait times for care by increasing capacity for gender-affirmation surgery, and improve care experiences,” writes Dr. Gianni Lorello, a scientist at the Women’s College Research and Innovation Institute, anesthesiologist at University Health Network, and associate professor at the University of Toronto, Toronto, Ontario, with coauthors https://www.cmaj.ca/lookup/doi/10.1503/cmaj.231250.

In a related humanities articlehttps://www.cmaj.ca/lookup/doi/10.1503/cmaj.230935, Florence Ashley, assistant professor, Faculty of Law and John Dossetor Health Ethics Centre at the University of Alberta, Edmonton, Alberta, argues that gender self-determination is a medical right and that health care providers are ethically bound to respect this and examine their gatekeeping practices.

“The burden of justifying barriers to care should fall on the health care providers who erect them and not on those seeking care to affirm their gender,” Ashley argues.

“Health care providers working with transgender communities should carefully examine their gatekeeping practices to ascertain whether they are justified by clear and compelling evidence and abandon those that cannot meet this justificatory threshold.”

Dr. Kirsten Patrick, Editor-in-Chief of CMAJ, comments in an editorial https://www.cmaj.ca/lookup/doi/10.1503/cmaj.240878 that “receiving care that validates their chosen identity is associated with better physical and mental health for transgender and gender-diverse patients. Even if access to interventions is limited, compassionate and kind care need not be.”

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JOURNAL

Canadian Medical Association Journal

DOI

10.1503/cmaj.240061 

SUBJECT OF RESEARCH

People

ARTICLE TITLE

Lived experiences of transgender and nonbinary people in the perioperative context: a qualitative study

 

‘Healthy’ workplaces a vital factor in clawing back billions of dollars lost to workplace injuries and illness

UNIVERSITY OF SOUTH AUSTRALIA

A new study published this week shows how the global economy could claw back billions of dollars lost each year due to workplace injuries and illness.

In Australia, more than 500,000 employees sustain injuries or illnesses relating to work and in 60% of cases, this requires time off work. That equates to around $30 billion, equivalent to the annual output of Australia’s agricultural sector.

In Canada, their annual costs are equivalent (CAD $29.4 billion); the United Kingdom comes in at GBP £18.8 billion each year and across the European Union (EU), a staggering €467 billion a year.

New research published in Safety Science reveals that companies that offer healthy working conditions to employees, including supportive relationships with supervisors, valuing skills and job autonomy, and minimising work stress, report far fewer days lost per workers’ compensation claim.

Researchers from the University of South Australia’s Psychosocial Safety Climate Global Observatory compared working conditions in 100 Australian organisations to 12,000 injured workers’ compensation claims, identifying the root cause of delays in people returning to work after workplace-related injury or illness.

Organisations with a poor psychosocial safety climate (PSC) reported 160% more days off due to workplace injury or illness, compared to high PSC organisations (177 days vs 68 days).

Likewise, costs for the injury or illness were 104% greater in very low PSC organisations versus high PSC organisations ($67,260 vs $32,939 per employee).

“Our findings show that a healthy psychological climate in workplaces is essential if companies want to reduce working time loss and costs related to workplace injuries and illnesses,” says UniSA ARC Laureate Fellow Professor Maureen Dollard.

The researchers avoided individual bias by correlating data sets at the organisational level rather than surveys with injured employees on retrospective work conditions.

“Aside from a strong PSC, the most important factors in predicting a quicker return to work included how satisfying and rewarding their job was, how supportive their supervisor was, whether their skills were potentially adaptable, and how much autonomy they had in their role.”

In Australia, during 2017-18, an estimated 563,000 people had an injury or illness related to work, representing 4.2% of the workforce. In 60% of cases, this involved taking time off work, costing the equivalent of Australia’s annual agricultural output, or 1.6% of the nation’s GDP.

The most common occupations featured in the claims data included nurses, police officers and personal assistants. Muscle-related injuries comprised the bulk of the claims.

“These findings provide more evidence that ‘healthy’ workplaces matter,” says Prof Dollard. “They are not only important to our psychological health and to prevent injury to workers, but PSC is just as important following injury or illness.

“Building an organisation with strong PSC will help to reduce time lost and also cut costs through better injury prevention and management.”

Notes for editors

“PSC as an organisational level determinant of working time lost and expenditure following workplace injuries and illnesses” is authored by Professor Maureen Dollard and colleagues from UniSA’s PSC Global Observatory. DOI: 10.1016/j.ssci.2024.106602

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JOURNAL

Safety Science

DOI

10.1016/j.ssci.2024.106602 

METHOD OF RESEARCH

Case study

SUBJECT OF RESEARCH

People

ARTICLE TITLE

PSC as an organisational level determinant of working time lost and expenditure following workplace injuries and illnesses

Will continuous cropping of crops necessarily lead to continuous cropping obstacles?

HIGHER EDUCATION PRESS

 

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GRAPHICAL ABSTRACT

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CREDIT: KUNGUANG WANG, QIAOFANG LU, ZHECHAO DOU, ZHIGUANG CHI, DONGMING CUI, JING MA, GUOWEI WANG, JIALING KUANG, NANQI WANG, YUANMEI ZUO

Continuous cropping obstacles (CCOs) refer to the phenomenon that the same crop or its related species are continuously planted on the same plot, and even under normal management conditions, the yield and quality of products are still reduced, and the diseases and insect pests become serious. CCOs can cause crop yield losses of up to 20%–80%. Areas with severe continuous cropping problems will almost suffer a total loss of production, which has become one of the biggest limiting factors for agricultural capacity expansion and sustainability. In the past, the question of CCOs has always perplexed agricultural scientists: What is the cause of CCOs? Will long-term continuous cropping definitely lead to CCOs? How to reduce CCOs?

To answer these questions, this article summarizes past studies. CCOs is the external manifestation of the interaction between plants, soil, microorganisms, and the environment. Soil degradation, soil ecological environment deterioration, and plant autotoxicity are the main causes of CCOs. However, not all soils will have CCOs after long-term continuous cropping. In continuous cropping, there are three main disease patterns of soil-borne diseases: (1) continuous severe type, is manifested in that the disease becomes more serious and the crop yield continues to decrease during the entire continuous cropping process; ( 2) late relief type, is manifested in that the soil-borne diseases are serious in the early stage of continuous cropping, and the disease-suppressing soil is formed in the late stage of continuous cropping, and the soil-borne diseases are alleviated; (3) continuous fluctuation type, is manifested in the alternation of severe disease period and disease relief period during continuous cropping. The rhizobiont theory emphasizes that nutrient efficiency is a process of synergistic interaction and improvement of multi-interface systems from soil to soil organisms to plants. Therefore, to solve the problem of CCOs, it is necessary to reduce from the system level by regulating the cascade amplification effect of the various interfaces of the rhizosphere. Through reasonable water and fertilizer management, optimized planting structure, conservation tillage, soil biological regulation, and other measures, the soil micro-food web structure can be regulated to achieve the reduction of CCOs. This paper summarizes the pathogenesis of soil-borne diseases in continuous cropping soils, and proposes that it is necessary to start from the system perspective of plant–soil–soil biological interactions and prevent soil-borne diseases in a targeted manner to achieve the reduction of continuous cropping obstacles. This study has been published on the Journal of Frontiers of Agricultural Science and Engineering in Vol. 11, No. 2, 2024, DOI: 10.15302/J-FASE-2024543.

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JOURNAL

Frontiers of Agricultural Science and Engineering

DOI

10.15302/J-FASE-2024543 

METHOD OF RESEARCH

Experimental study

SUBJECT OF RESEARCH

Not applicable

ARTICLE TITLE

A review of research progress on continuous cropping obstacles

 

An out-of-Africa story hiding in our DNA

HIGHER EDUCATION PRESS

“Who are we and where do we come from?” This quintessential question has intrigued humanity for millennia. Currently, the “Out-of-Africa (OOA) theory” is prevailingly accepted regarding the origin of modern humans, as a line of evidence indicates that Homo sapiens originated in Africa. It is inferred that a small group of modern humans migrated out of Africa ~70,000 years ago, and nearly all humans outside of Africa today are considered as descendants of these early pioneers. Serving as a shelter, Africa protected modern humans from extreme cold conditions during repeated ice ages. Early humans adapted to the heat dissipation requirements of running on the East African grasslands by losing their thick body hair. However, when the ancestors of modern humans left Africa, they encountered the survival challenges as previous pioneers did: how to keep their bodies warm in extremely cold climates. Are there remnants in the human genome that reflect the evolutionary adaptations of our ancestors who endured extreme environments?

Genome-wide association studies (GWAS) have significantly advanced disease genetics and provided invaluable tools for exploring human evolutionary events. In 2007, a cluster of single nucleotide polymorphisms (SNPs) within intron 1 of the FTO (fat mass and obesity-associated) gene was identified as being most strongly associated with obesity risk. However, it remained unclear whether these SNPs directly contribute to the development of obesity. The turning point came in 2015 when Claussnitzer et al. published a milestone article in the New England Journal of Medicine. The study pinpointed the rs1421085 T>C variant within the FTO SNP cluster for the first time, showing that this variant inhibited the expression of UCP1 (uncoupling protein 1), a core gene of thermogenesis, and reduced thermogenic capacity of differentiated human beige fat cells. While this study appears to elucidate the molecular mechanism of FTO variants in obesity, it is noted that there is a lack of direct in vivo evidence to support these findings.

In 2023, our group published a paper in Nature Metabolism that challenged the above conclusions. Our findings revealed that mice carrying the homozygous CC-alleles exhibit enhanced brown adipose tissue (BAT) thermogenesis and resistance to high-fat diet-induced obesity. Notably, mice harboring the CC-alleles showed ~6 °C higher than those with TT-alleles when exposed to a cold room (4 °C). These results led us to speculate that the rs1421085 T>C variant might be related to mammals’ adaptation to cold environments.

To further investigate whether the rs1421085 T>C variant affects thermogenesis in humans, we recently conducted a study using human fetal BAT obtained from aborted samples due to developmental defects. The results demonstrated that TC-allele carriers owed higher expression of UCP1 in BAT than TT-allele carriers, aligning with our previous observations in mice. This discovery prompted us to reassess the connection among the rs1421085 T>C variant, obesity, and human evolutionary processes. Could the expansion of this variant be attributed to positive selection for human adaptation to cold environments?

Over the last 100,000 years, modern humans have migrated from low latitudes to high latitudes, transitioning from tropical and temperate zones to colder regions, and shifting from hunter-gatherer societies to agricultural and pastoral lifestyles. These environmental changes have imposed evolutionary pressures that have played a pivotal role in shaping phenotypic diversity across diverse populations. For instance, the Inuit population residing in the frigid Arctic region heavily rely on marine fish abundant in omega-3 polyunsaturated fatty acids (PUFAs) for their diet. The most prominent signal of positive selection is observed within the fatty acid desaturase (FADS) gene. Notably, these genetic variants were initially associated with height traits in general populations. Could a comparable mechanism of positive selection elucidate the narrative behind the rs1421085 T>C variant?

Thus, using a systematic analysis of the rs1421085 C-allele frequency among diverse ancestral groups, we observed a remarked inverse correlation between the C-allele frequency and mean earth skin temperatures in January. This observed pattern indicates that “the colder the location, the higher the frequency of this variant”. In contrast, no correlation was found between the frequency and longitudes or altitudes among populations. Interestingly, the step-by-step shift of the C-allele frequency tracked the “modern human migration route map” documented previously. Building on these human and mouse results, encompassing both in vitro and in vivo experiments, and considering the genetic distribution patterns of Eurasian and African populations, we proposed a hypothesis that the substantial variance in the C-allele frequency across populations from Africa to Eurasia might be driven by positive selection mechanisms linked to varying levels of cold stress.

During the peer review process, reviewers noted some deviations in the correlation analysis, particularly regarding the high frequency of the C-allele in populations from the Indian subcontinent, which did not correspond with local ambient temperatures. Back to human genetic studies, a range of Eurasian-related ancestry varies from 20% to 80% across diverse Indian ethnic populations. The potential influx of populations or migrations from the north and west, known as the “Aryan invasion theory”, may have contributed to the ancient Indian civilizations’ decline. We speculated that historical invasions or migrations may have altered the original gene frequencies of ancient Indian populations by introducing high-frequency C-alleles from cold high-altitude regions. Therefore, major historical events may underlie these seemingly contradictory genetic findings.

    Despite the absence of direct evidence from ancient human fossils, the significance of this study lies in pinpointing the functional FTO variant—rs1421085 T>C—as potentially the inaugural locus established to enhance the expression of human thermogenic genes and be positively selected in response to cold temperatures. Our speculation suggests that this variant could confer newborn carriers a substantial survival advantage in cold climates, particularly during the short term after birth, by enhancing BAT thermogenesis. This genetic adaptation may represent just one of the numerous variants early humans employed to acclimate to harsh cold environments. We anticipate that further genetic variants relevant to this intricate evolutionary trajectory will be unraveled in the future.

Our team has devoted extensive effort over more than a decade to delve into obesity genetics, particularly focusing on the FTO SNP through functional studies. Initially, we aimed to decipher the role of this pivotal variant in obesity. As our investigations have progressed, a realization has emerged that “genetic signals affecting the development of obesity in modern humans may have been destined since the moment human pioneers migrated out of Africa”. Delving into genetic studies on modern complex diseases often entails a lengthy and arduous journey to unveil the narrative’s origin, given the myriad of accidental or inevitable, random or intentional factors at play. This process mirrors the tale of “the blind men and the elephant”, marked by debates, contradictions, and crucially, collaborative support. While the question of “where do we come from?” remains enigmatic, this research provides a glimpse of intrepid pioneers navigating within the winds and snows of distant eras and realms.

The intricacies of human genetics likely harbor numerous undisclosed secrets regarding cold resistance, alongside countless ancient narratives revolving around survival and demise. Much like the rock paintings adorning the walls of the Blombos Cave, our DNA serves as a faithful recorder of every notable event along the intricate path of human evolution. This enduring repository of our history calls for ceaseless exploration and investigation, offering insights into our complex journey through time and adaptation.

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JOURNAL

Life Metabolism

DOI

10.1093/lifemeta/loae027 

METHOD OF RESEARCH

Experimental study

SUBJECT OF RESEARCH

People

ARTICLE TITLE

The FTO variant with enhanced UCP1 expression is linked to human migration out of Africa

 

Neutrons on classically inexplicable paths

Is nature really as strange as quantum theory says - or are there simpler explanations? Neutron measurements at TU Wien prove: It doesn't work without the strange properties of quantum theory

Peer-Reviewed Publication

VIENNA UNIVERSITY OF TECHNOLOGY

 

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VIOLATION OF A LEGGETT-GARG INEQUALITY USING IDEAL NEGATIVE MEASUREMENTS IN NEUTRON INTERFEROMETRY

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CREDIT: TU WIEN

Can a particle be in two different places at the same time? In quantum physics, it can: Quantum theory allows objects to be in different states at the same time – or more precisely: in a superposition state, combining different observable states. But is this really the case? Perhaps the particle is actually in a very specific state, at a very specific location, but we just don't know it?

The question of whether the behaviour of quantum objects could perhaps be described by a simple, more classical theory has been discussed for decades. In 1985, a way of measuring this was proposed: the so-called "Leggett-Garg inequality". Any theory that describes our world without the strange superposition states of quantum theory must obey this inequality. Quantum theory, on the other hand, violates it. Measurements with neutrons testing this "Leggett-Garg inequality” have now been carried out for the first time at TU Wien – with a clear result: the Leggett-Garg inequality is violated, classical explanations are not possible, quantum theory wins. The results have now been published in the journal Physical Review Letters.

Physical realism

We normally assume that every object has certain properties: A ball is at a certain location, it has a certain speed, perhaps also a certain rotation. It doesn't matter whether we observe the ball or not. It has these properties quite objectively and independently of us. "This view is known as 'realism'," says Stephan Sponar from the Atomic Institute at TU Wien.

We know from our everyday experience that large, macroscopic objects in particular must obey this rule. We also know that Macroscopic objects can be observed without being influenced significantly. The measurement does not fundamentally change the state. These assumptions are collectively referred to as "macroscopic realism".

However, quantum theory as we know it today is a theory that violates this macroscopic realism. If different states are possible for a quantum particle, for example different positions, speeds or energy values, then any combination of these states is also possible. At least as long as this state is not measured. During a measurement, the superposition state is destroyed: the measurement forces the particle to decide in favour of one of the possible values.

The Leggett-Garg inequality

Nevertheless, the quantum world must be logically connected to the macroscopic world – after all, large things are made up of small quantum particles. In principle, the rules of quantum theory should apply to everything.

So the question is: Is it possible to observe behaviour in "large" objects that cannot be reconciled with our intuitive picture of macroscopic realism? Can macroscopic things also show clear signs of quantum properties?

In 1985, physicists Anthony James Leggett and Anupam Garg published a formula with which macroscopic realism can be tested: The Leggett-Garg Inequality. "The idea behind it is similar to the more famous Bell's inequality, for which the Nobel Prize in Physics was awarded in 2022," says Elisabeth Kreuzgruber, first author of the paper. "However, Bell's inequality is about the question of how strongly the behaviour of a particle is related to another quantum entangled particle. The Leggett-Garg inequality is only about one single object and asks the question: how its state at specific points in time related to the state of the same object at other specific points in time?"

Stronger correlations than classical physics allows

Leggett and Garg assumed an object that can be measured at three different times, each measurement can have two different results. Even if we know nothing at all about whether or how the state of this object changes over time, we can still statistically analyse how strongly the results at different points in time correlate with each other.

It can be shown mathematically that the strength of these correlations can never exceed a certain level - assuming that macroscopic realism is correct. Leggett and Garg were able to establish an inequality that must always be fulfilled by every macroscopic realistic theory, regardless of any details of the theory.

However, if the object adheres to the rules of quantum theory, then there must be significantly stronger statistical correlations between the measurement results at the three different points in time. If an object is actually in different states at the same time between the measurement times, this must – according to Leggett and Garg – lead to stronger correlations between the three measurements.

Neutron beams: Centimetre-sized quantum objects

"However, it is not so easy to investigate this question experimentally," says Richard Wagner. "If we want to test macroscopic realism, then we need an object that is macroscopic in a certain sense, i.e. that has a size comparable to the size of our usual everyday objects." At the same time, however, it must be an object that has a chance of still showing quantum properties.

"Neutron beams, as we use them in a neutron interferometer, are perfect for this," says Hartmut Lemmel, instrument responsible at the S18 instrument at the Institut Laue-Langevin (ILL) in Grenoble, where the experiment was conducted. In the neutron interferometer, a silicon perfect crystal interferometer that was first successfully used at the Atomic Institute of TU Wien in the early 1970s, the incident neutron beam is split into two partial beams at the first crystal plate and then recombined by another piece of silicon. There are therefore two different ways in which neutrons can travel from the source to the detector.

"Quantum theory says that every single neutron travels on both paths at the same time," says Niels Geerits. "However, the two partial beams are several centimetres apart. In a sense, we are dealing with a quantum object that is huge by quantum standards."

Using a sophisticated combination of several neutron measurements, the team at TU Wien was able to test the Leggett-Garg inequality – and the result was clear: the inequality is violated. The neutrons behave in a way that cannot be explained by any conceivable macroscopically realistic theory. They actually travel on two paths at the same time, they are simultaneously located at different places, centimetres apart. The idea that "maybe the neutron is only travelling on one of the two paths, we just don't know which one" has thus been refuted.

"Our experiment shows: Nature really is as strange as quantum theory claims," says Stephan Sponar. "No matter which classical, macroscopically realistic theory you come up with: It will never be able to explain reality. It doesn't work without quantum physics."

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JOURNAL

Physical Review Letters

DOI

10.1103/PhysRevLett.132.260201 

ARTICLE TITLE

Violation of a Leggett-Garg Inequality Using Ideal Negative Measurements in Neutron Interferometry