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Key facts Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Apocrine carcinoma: a rare form of breast cancer 22/04/25, 14:13 Last updated: Published: 05/09/24, 10:20 Key facts This is article no. 7 in a series on Rare Diseases. Next article: Pseudo-Angelman Syndrome . Previous article: Neuromyelitis optica . Apocrine carcinoma (AC) is a rare form of breast cancer, accounting for approximately 1-4% of all breast cancer cases worldwide. It affects a wide range of patients from 19 to 92 years of age, with the reported mean age varying from 53 to 62 years. AC of the skin - primary cutaneous apocrine carcinoma - is the only other known cancer that arises from apocrine cells. This is a very rare cancer with limited research. AC is commonly classified into two subtypes: triple-negative AC (TNAC) and HER2+ AC. Another receptor not included in the ‘triple negative’ name is the androgen receptor (AR). A ‘pure’ apocrine carcinoma is ER-negative, PR-negative, but AR-positive. Among triple negative ACs, ones that are AR-positive have a better prognosis. AC is often associated with triple-negative breast cancers (TNBC), meaning that it does not express oestrogen receptors (ER) and progesterone receptors (PR), and produces very little to no HER2– all of which play key roles in the reproductive system. AC arises from apocrine metaplastic cells that are commonly located in the lobules of the breast. This disease can be aggressive and can metastasise to the lymph nodes and distant organs (eg. lungs, liver, and bone). What makes AC different is the appearance of cells which have abundant granular eosinophilic or cytoplasm with fine empty vacuoles. Despite its rarity, focal apocrine differentiation is relatively common (reported in approximately 60% of not otherwise specified [NOS] invasive ductal carcinoma) and shows clinical presentation and radiographic findings similar to that of invasive ductal carcinoma NOS. TNBCs are generally aggressive and present a poor prognosis. However, studies show apocrine breast cancer to have a better prognosis and low proliferative nature, despite its poor response to neoadjuvant chemotherapy. Treatment of AC may include surgery, radiation therapy, chemotherapy, hormone therapy, or targeted therapy. The problem with TNACs is that therapies targeting the hormone receptors are ineffective. Conversely, targeted therapy is seen to work relatively well with HER2-positive ACs despite them being more aggressive than TNACs. ACs can be diagnosed through a series of tests—usually a mammogram, ultrasound, biopsy, and finally immunohistochemistry. The latter makes it possible to know the status of the ERs and PRs. As with most breast cancers the earlier the detection and treatment implementation, the better the prognosis for the patient. ACs can be hard to diagnose due to its rarity and non-specific presentation. AC has a low proliferative nature, which is shown in its low Ki-67 index. Ki-67 has a higher presentation in cells that have a high division rate. Slower division rates result in slower growth rates of the tumour, and may imply that there is a better prognosis. This could be one of the reasons why apocrine triple-negative breast cancers have a better prognosis than other types of TNBCs. There is promise in the future for AC, however this is not without its challenges. Due to its rarity there are limited patients to participate in clinical trials which are essential in new treatment development. Written by Henrietta Owen & Sherine A Latheef Related article: Epitheliod hemangioendothelioma REFERENCES Apple, S.K., Bassett, L.W. and Poon, C.M. (2011) ‘Invasive ductal carcinomas’, Breast Imaging, pp. 423–482. doi:10.1016/b978-1-4160-5199-2.00022-9. Bcrf (2024) Types of breast cancer: BCRF, Breast Cancer Research Foundation. Available at: https://www.bcrf.org/blog/types-of-breast-cancer/ (Accessed: 05 June 2024). Hu, T. et al. (2022) ‘Triple-negative apocrine breast carcinoma has better prognosis despite poor response to neoadjuvant chemotherapy’, Journal of Clinical Medicine, 11(6), p. 1607. doi:10.3390/jcm11061607. Suzuki, C., Yamada, A., Kawashima, K., Sasamoto, M., Fujiwara, Y., Adachi, S., Oshi, M., Wada, T., Yamamoto, S., Shimada, K., Ota, I., Narui, K., Sugae, S., Shimizu, D., Tanabe, M., Chishima, T., Ichikawa, Y., Ishikawa, T., & Endo, I. (2023). Clinicopathological Characteristics and Prognosis of Triple-Negative Apocrine Carcinoma: A Case-Control Study. World Journal of Oncology, 14(6), 551-557. Vranic, S., Feldman, R. and Gatalica, Z. (2017) ‘Apocrine carcinoma of the breast: A brief update on the molecular features and targetable biomarkers’, Bosnian Journal of Basic Medical Sciences, 17(1), pp. 9–11. doi:10.17305/bjbms.2016.1811 Xiao, X., Jin, S., Zhangyang, G., Xiao, S., Na, F. and Yue, J. (2022). Tumor-infiltrating lymphocytes status, programmed death-ligand 1 expression, and clinicopathological features of 41 cases of pure apocrine carcinoma of the breast: a retrospective study based on clinical pathological analysis and different immune statuses. Gland Surgery, 11(6), pp.1037–1046. doi:https://doi.org/10.21037/gs-22-248. Project Gallery

A Scientia News Biology collaboration Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Artificial intelligence: the good, the bad, and the future 20/03/25, 12:01 Last updated: Published: 13/12/23, 17:10 A Scientia News Biology collaboration Introduction Artificial intelligence (AI) shows great promise in education and research, providing flexibility, curriculum improvements, and knowledge gains for students. However, concerns remain about its impact on critical thinking and long-term learning. For researchers, AI accelerates data processing but may reduce originality and replace human roles. This article explores the debates around AI in academia, underscoring the need for guidelines to harness its potential while mitigating risks. Benefits of AI for students and researchers Students Within education, AI has created a buzz for its usefulness in aiding students to complete daily and complex tasks. Specifically, students have utilised this technology to enhance their decision making process, improve workflow and have a more personalised learning experience. A study by Krive et al. (2023) demonstrated this by having medical students take an elective module to learn about using AI to enhance their learning and understand its benefits in healthcare. Traditionally, medical studies have been inflexible, with difficulty integrating pre-clinical theory and clinical application. The module created by Krive et al. introduced a curriculum with assignments featuring online clinical simulations to apply preclinical theory to patient safety. Students scored a 97% average on knowledge exams and 89% on practical exams, showing AI's benefits for flexible, efficient learning. Thus, AI is able to assist in enhancing student learning experiences whilst saving time and providing flexibility. Additionally, we gathered testimonials from current STEM graduates and students to better understand the implications of AI. In Figure 1 , we can see that the students use AI to benefit their exam learning, get to grips with difficult topics, and summarise long texts to save time whilst exercising caution, knowing that AI has limitations. This shows that AI has the potential to become a personalised learning assistant to improve comprehension and retention and organise thoughts, all of which allow students to enhance skills through support as opposed to reliance on the software. Despite the mainstream uptake of AI, one student has chosen not to use AI in the worry of becoming less self-sufficient, and we will explore this dynamic in the next section. Researchers AI can be very useful for academic researchers, such as making the process of writing and editing papers based on new scientific discoveries less slow or even facilitating it altogether. As a result, society may have innovative ways to treat diseases and increase the current knowledge of different academic disciplines. Also, AI can be used for data analysis by interpreting a lot of information, and this not only saves time but a lot of money required to complete this process accurately. The statistics and graphical findings could be used to influence public policy or help different businesses achieve their objectives. Another quality of AI is that it can be tailored towards the researcher's needs in any field, from STEM to subject areas outside of it, indicating that AI’s utilities are endless. For academic fields requiring researchers to look at things in greater detail, like molecular biology or immunology, AI can help generate models to understand the molecules and cells involved in such mechanisms sufficiently. This can be through genome analysis and possibly next generation sequencing. Within education, researchers working as lecturers can utilise AI to deliver concepts and ideas to students and even make the marking process more robust. In turn, this can decrease the burnout educators experience in their daily working lives and may possibly help establish a work-life balance, as a way to feel more at ease over the long-term. Risks of AI for students and researchers Students With great power comes great responsibility, and with the advent of AI in school and learning, there is increasing concern on the quality of learners produced from schools, and if their attitude to learning and critical thinking skills are hindered or lacking. This matter has been echoed in results from a study conducted by Ahmad et al. (2023), which studied how AI affects laziness and distorts decision making in university students. The results showed using AI in education correlated with 68.9% of laziness and a 27.7% loss in decision making abilities in 285 students across Pakistani and Chinese institutes. This confirms some worries that a former testimonial shared with us in figure 1 and suggests that students may become more passive learners rather than develop key life skills. This may even lead to reluctance to learn new things and seeking out ‘the easy way’ rather than enjoy obtaining new facts. Researchers Although AI can be great for researchers, it carries its own disadvantages. For example, it could lead to reduced originality while writing, and this type of misconduct jeopardises the reputation of the people working in research. Also, the software is only as effective as the type of data they are specialised in, so specific AI could misinterpret the data. This has downstream consequences that can affect how research institutions are run, and beyond that, scientific inquiry is hindered. Therefore, if severely misused, AI can undermine the integrity of academic research, which could hinder the discovery of life-saving therapies. Furthermore, there is the potential for AI to replace researchers, suggesting that there may be fewer opportunities to employ aspiring scientists. When given insufficient information, AI can be biased, which can be detrimental; an article found that its use in a dermatology clinic can put certain patients at risk of skin cancer and suggested that it receives more diverse demographic data for AI to work effectively. Thus, it needs to be applicable in a strategic way to ensure it works as intended and does not cause harm. Conclusion Considering the uses of AI for students and researchers, it is advantageous to them by supporting any knowledge gaps, aiding in data analysis, boosting general productivity and can be used to engage with the public and much more. Its possibilities for enhancing industries such as education and drug development are endless for propagating societal progression. Nevertheless, the drawbacks of AI cannot be ignored, like the chance of it replacing people in jobs or that it is not completely accurate. Therefore, guidelines must be defined for its use as a tool to ensure a healthy relationship between AI and students and researchers. According to the European Network of Academic Integrity (ENAI), using AI for proofreading, spell checking, and as a thesaurus is admissible. However, it should not be listed as a co-author because, compared to people, it is not liable for any reported findings. As such, depending on how AI is used, it can be a tool to help society or be detrimental, so it is not inherently good or bad for students, researchers and society in general. Written by Sam Jarada and Irha Khalid Introduction, and 'Student' arguments by Irha Conclusion, and 'Researcher' arguments by Sam Related articles: Evolution of AI / AI in agriculture and rural farming / Can a human brain be uploaded to a computer? Project Gallery

Knowing which species menstruate lets us pick suitable animal models Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Do other animals get periods? Last updated: 16/06/25, 16:25 Published: 26/06/25, 07:00 Knowing which species menstruate lets us pick suitable animal models Periods, formally called menstruation, happen to female mammals every menstrual cycle when an egg cell is not fertilised. Levels of the progesterone hormone decrease, causing the lining of the uterus to self-destruct and shed. This lining is called the endometrium and is flushed out of the body with blood during menstruation. Some primates, bats, the spiny mouse, and elephant shrews get periods ( Figure 1 ). Since these groups are distantly related, menstruation likely evolved multiple times independently. Knowing which species menstruate lets us pick animal models which best reflect the human female reproductive system. Why do we get periods? Despite being painful and inconvenient, menstruation must have some benefit; otherwise, natural selection would not favour it on multiple separate occasions. Hypotheses put forward to explain menstruation include clearing the uterus of pathogens and saving energy compared to maintaining an endometrium all the time. A 2012 paper argues that neither of these hypotheses are true and that menstruation is an unfortunate byproduct of the way pregnancy occurs in certain animals. In non-menstruating animals, an embryo induces morphological and biological changes in the uterus, so those changes do not happen if they are not pregnant. The uterus of a menstruating animal undergoes regular changes even without an embryo, and one of those changes is shedding the endometrium. However, there is no consensus on the benefits of menstruation. Non-human primates Old World monkeys, apes, and humans menstruate conspicuously. This could be because their endometria have spiral arteries, which dilate and weaken in response to hormones. Eventually, the weakened arteries break and release blood, which carries dead and detached endometrial tissue out of the body. While chimpanzee menstruation is visible to the naked eye, menstrual blood in orangutans and gorillas is detected with a chemical urine strip. Gorillas bleed for 3 days, while orangutans bleed for 1-4 days. Humans have the most obvious, and possibly the most prolonged, menstruation out of the Old World primates. (Aren’t we unlucky?). On the other hand, the very few New World monkey species which menstruate need a microscope to detect it. Pedro Mayor and colleagues sampled the endometria of various New World monkeys and viewed those samples under a microscope. They found that monkeys from the Aotus nancymaae and Sapajus macrocephalus species had weakened endometria with dilated blood vessels and blood clots ( Figure 2 ). Combined with other context clues from those endometrium samples, they concluded that those monkeys must be menstruating. Bats Microscopy also identified menstruation in some bat species. In a 2011 study, uterus sections from Carollia perspicillata bats showed the endometrium getting thinner over a few days with associated bleeding. Some sections had endometrial debris in the lumen of the uterus – but unlike in Old World primates and humans, this debris was reabsorbed by the body rather than released. Menstruating Molossus ater bats had blood and endometrial cells in their cervix under a microscope, while one individual was visibly bleeding in its vagina. In contrast, a colony of female Rousettus leschenaulti bats all had visible vaginal bleeding on the same day. On that day, two-thirds of their endometria were shed, and they had low progesterone levels – meaning those bats were menstruating. Bat menstruation differs from primates in at least two ways. Firstly, menstruation happens simultaneously with ovary development in Carollia perspicillata and before ovary development in primates. Secondly, some bat species only menstruate after an interrupted mating attempt – which scientists call coitus , and the public would call “pulling out”. Perhaps menstruation gives these bats a second chance at successful mating in that breeding season. Conclusion We rarely see other animals on their period because if the species does menstruate, they do not bleed as much as humans do. Evidence of menstruation in New World monkeys and bats usually came from microscopy, where the endometrium was seen to detach, and blood was seen in the uterine lumen. These monkeys and bats could be used as rudimentary animal models to study what happens in humans during a period. Written by Simran Patel Related article: Monkey see, monkey clone REFERENCES Catalini L, Fedder J. Characteristics of the endometrium in menstruating species: lessons learned from the animal kingdom. Biology of Reproduction [Internet]. 2020 May 26 [cited 2025 Jan 8];102(6):1160–9. Available from: https://doi.org/10.1093/biolre/ioaa029 Mayor P, Pereira W, Nacher V, Navarro M, Monteiro FOB, El Bizri HR, et al. Menstrual cycle in four New World primates: Poeppig’s woolly monkey (Lagothrix poeppigii), red uakari (Cacajao calvus), large-headed capuchin (Sapajus macrocephalus) and nocturnal monkey (Aotus nancymaae). Theriogenology [Internet]. 2019 Jan 1 [cited 2025 Jan 7];123:11–21. Available from: https://www.sciencedirect.com/science/article/pii/S0093691X18302796 Rasweiler IV JJ, Badwaik NK, Mechineni KV. Ovulation, Fertilization, and Early Embryonic Development in the Menstruating Fruit Bat, Carollia perspicillata. The Anatomical Record [Internet]. 2011 [cited 2025 Jan 8];294(3):506–19. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/ar.21304 Graham C. Reproductive Biology of the Great Apes: Comparative and Biomedical Perspectives. Elsevier; 2012. 456 p. Rasweiler IV JJ. Spontaneous decidual reactions and menstruation in the black mastiff bat, Molossus ater. American Journal of Anatomy [Internet]. 1991 [cited 2025 Jan 8];191(1):1–22. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/aja.1001910102 Martin RD. The evolution of human reproduction: A primatological perspective. American Journal of Physical Anthropology [Internet]. 2007 [cited 2025 Jan 8];134(S45):59–84. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajpa.20734 Emera D, Romero R, Wagner G. The evolution of menstruation: A new model for genetic assimilation. BioEssays [Internet]. 2012 [cited 2025 Jan 8];34(1):26–35. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/bies.201100099 Zhang X, Zhu C, Lin H, Yang Q, Ou Q, Li Y, et al. Wild Fulvous Fruit Bats (Rousettus leschenaulti) Exhibit Human-Like Menstrual Cycle1. Biology of Reproduction [Internet]. 2007 Aug 1 [cited 2025 Jan 8];77(2):358–64. Available from: https://doi.org/10.1095/biolreprod.106.058958 Project Gallery

Psychology delves into the human mind and behaviour. Read on for compelling articles ranging from reward sensitivity to evolutionary, and empathy-altruism theories. Discover the psychology of emotions: embarrassment, and aggression. Psychology Articles Psychology delves into the human mind and behaviour. Read on for compelling articles ranging from reward sensitivity to evolutionary, and empathy-altruism theories. Discover the psychology of emotions: embarrassment, and aggression. You may also like: Biology, Medicine Motivating the mind Effect of socioeconomic status on reward sensitivity The evolutionary theory by Darwin vs empathy-altruism Explaining altruism through different theories A perspective on well-being Hedonic vs eudaimonic: based on the principles of Aristotle and Aristippus Nature vs. nurture in childhood intelligence What matters most? The psychology of embarrassment Why do we feel this emotion? Models and theories A primer on the Mutualism theory of intelligence A detailed review on different studies Unmasking aggression Is this fierce emotion the result of personal, or social triggers? Mental health strategies Raising awareness to look after mental health Imposter syndrome in STEM Have you ever had this feeling in your STEM education or job? Mental health in the South Asian community Why is it not yet such an open discussion? The cognitive orchestra How music can manipulate emotional processes The attentional blink An exploration of this concept in rapid serial visual presentation studies Postpartum depression in adolescent mothers An analysis of risk and protective factors

An introductory and comprehensive review of complex diseases and their environmental influences. Using schizophrenia as an example, we are interested in exploring one of the biggest questions that underlie complex diseases. Go Back Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link The environment on complex diseases: schizophrenia Last updated: 18/11/24 Published: 08/05/23 An introductory and comprehensive review of complex diseases and their environmental influences. Using schizophrenia as an example, we are interested in exploring one of the biggest questions that underlie complex diseases. Introduction: Not Exactly a Yes or No Question Many things in science revolve around questions. It is remarkable to find the number of questions left for scientists to answer or those that will remain unanswered. Indeed, one of the most daunting tasks for any scientist would be to see through every detail of a piece of information, even if everyone has seen it, but with different sets of lenses and asking different sets of questions. After all, “why did the apple fall from its tree?”. However, asking questions is one thing. Finding answers and, more importantly, the evidence or proof that supports them does not always yield conclusive results. Nevertheless, perhaps some findings may shine a new light on a previously unanswered question. We can categorise the study of genetics into two questions: “What happens if everything goes well?” and “What happens if it goes wrong?”. Whilst there are virtually limitless potential causes of any genetic disease, most genetic diseases are known to be heritable. A mutation in one gene that causes a disease can be inherited from the parents to their offspring. Often, genetic diseases are associated with a fault in one gene, known as a single-gene disorder, with notorious names including Huntington’s disease, cystic fibrosis, sickle cell anaemia, and familial hypercholesterolaemia. These diseases have different mechanisms, and the causes are also diverse. But all these diseases have one thing in common: they are all caused by a mutation or fault in one gene, and inheriting any specific genes may lead to disease development. In other words, “either you have it, or you do not”. The role of DNA and mutations in complex diseases. Image/ craiyon.com Multifactorial or complex diseases are a classification geneticists give to diseases caused by factors, faults or mutations in more than one gene. In other words, a polygenic disease. As a result, the research, diagnosis, and identification of complex diseases may not always produce a clear “black-and-white” conclusion. Furthermore, complex diseases make up most non-infectious diseases known. The diseases associated with leading causes of mortality are, in their respective ways, complex. Household names include heart diseases, Alzheimer’s and dementia, cancer, diabetes, and stroke. All of these diseases may employ many mechanisms of action, involving multiple risk factors instead of direct cause and effect, using environmental and genetic interactions or factors to their advantage, and in contrast to single-gene disorders, do not always follow clear or specific patterns of inheritance and always involve more than one problematic genes before the complete symptoms manifest. For these reasons, complex diseases are infamously more common and even more challenging to study and treat than many other non-infectious diseases. No longer the easy “yes or no” question. The Complex Disease Conundrum: Schizophrenia Here we look at the case of a particularly infamous and, arguably, notorious complex disease, schizophrenia (SCZ). SCZ is a severely debilitating and chronic neurodevelopmental disorder that affects around 1% of the world’s population. Like many other complex diseases, SCZ is highly polygenic. The NHS characterise SCZ as a “disease that tends to run in families, but no single gene is known to be directly responsible…having these genes does not necessarily mean one will develop SCZ”. As previously mentioned, many intricate factors are at play behind complex diseases. In contrast, there is neither a single known cause for SCZ nor a cure. Additionally, despite its discovery a century ago, SCZ is arguably not well understood, giving a clue to the sophisticated mechanisms that underlie SCZ. To further illustrate how such complexities may pose a challenge to future medical treatments, we shall consider a conundrum that diseases like SCZ may impose. The highly elaborate nature of complex diseases means that it is impossible to predict disease outcomes or inheritance with absolute certainty nor rule out potential specific causes of diseases. One of the most crucial aspects of research on complex diseases is their genetic architecture, just as a house is arguably only as good as its blueprint. Therefore, a fundamental understanding of the genes behind diseases can lead to a better knowledge of diseases’ pathogenesis, epidemiology, and potential drug target, and hopefully, one day bridge our current healthcare with predictive and personalised medicine. However, as mentioned by the NHS, one of the intricacies behind SCZ is that possessing variants of diseased genes does not translate to certainty in disease development or symptom manifestation. Our conundrum, and perhaps the biggest question on complex diseases like SCZ is: “Why, even when an individual possesses characteristic genes of a complex disease, they may not necessarily exhibit symptoms or have the disease?”. The enigma surrounding complex diseases lies in the elegant interactions between our genes, the blueprint of life, and “everything else”. Understanding the interplay of factors behind complex diseases may finally explain many of the intricacies behind diseases like SCZ. Genes and Environment: an Obvious Interaction? The gene-environment important implications on complex disease development were demonstrated using twin studies. A twin study, as its name suggests, is the study of twins by their similarities, differences, and many other traits that twins may exhibit to provide clues to the influences of genetic and external factors. Monozygotic (MZ) twins each share the same genome and, therefore, are genetically identical. Therefore, if one twin shows a phenotype, the other twin would theoretically also have said genes and should exhibit the corresponding trait. Experimentally, we calculate the concordance rate, which means the probability of both twins expressing a phenotype or characteristic, given that one twin has said characteristic. Furthermore, the heritability score may be mathematically approximated using MZ concordance and the concordance between dizygotic twins (twins that share around half a genome). These studies are and have been particularly useful in demonstrating the exact implications genetic factors have on phenotypes and how the expression of traits may have been influenced by confounding factors. In the case of SCZ, scientists have seen, over decades, a relatively low concordance rate but high heritability score. A recent study (published in 2018) through the Danish SCZ research cohort involved the analysis of around 31,500 twins born between the years 1951 and 2000, where researchers reported a concordance rate of 33% and estimated heritability score of 79%, with other older studies reporting a concordance rate up to and around 50%. The percentages suggest that SCZ is likely to be passed down. In other words, a genetically identical twin only has approximately 1 in 2 risks of also developing symptoms of SCZ if its opposite twin also displays SCZ. The scientists concluded that although genetic predisposition significantly affects one’s susceptibility or vulnerability against SCZ, it is not the single cause of SCZ. Demographically, there have been studies that directly link environmental risks to SCZ. Some risk factors, such as famines and malnutrition, are more evident than others. However, some studies also associate higher SCZ risk among highly industrialised countries and first or second-generation migrants. For instance, few studies point out an increased risk of SCZ within ethnic minorities and Afro-Caribbean immigrants in the United Kingdom. Hypotheses that may explain such data include stress during migration, potential maternal malnutrition, and even exposure to diseases. With this example, hopefully, we all may appreciate how the aetiology of SCZ and other complex diseases are confounded by environmental factors. In addition, how such factors may profoundly influence an individual’s genome. SCZ is a clear example of how genetic predisposition, the presence of essential gene variants characteristic of a disease, may act as a blueprint to a terrible disease waiting to be “built” by certain factors as if they promote such development. It is remarkable how genetic elements and their interactions with many other factors may contribute almost collectively to disease pathogenesis. We can reflect this to a famous quote amongst clinical geneticists: “genetics loads the gun, and environment pulls the trigger.” Carrying high-risk genes may increase the susceptibility to a complex disease, and an environment that promotes such disease may tip the balance in favour of the disease. However, finding and understanding the “blueprints” of SCZ, what executes this “blueprint”, and how it works is still an area of ongoing research. Furthermore, how the interplay between genetics and external factors can lead to profound effects like disease outcomes is still a relatively new subject. The Epigenome: the Environment’s Playground To review, it is clear that genes are crucial in complex disease aetiology. In the case of SCZ, high-risk genes and variances are highly attributed to disease onset and pathogenesis. However, we also see with twin studies that genetics alone cannot explain the high degree of differences between twins, particularly when referring to SCZ concordance between identical twins. In other words, external factors are at play, influencing one’s susceptibility and predisposition to SCZ. These differences can be explained by the effects epigenetics have on our genome. Epigenetic mechanisms regulate gene expression by modifying the genome. In short, on top of the DNA double strands, the genome consists of additional proteins, factors, and even chemical compounds that all aid the genetic functions our body heavily relies on. The key to epigenetics lies in these external factors’ ability to regulate gene expression, where some factors may promote gene expression whilst others may prevent it. Epigenetic changes alter gene functions as they can turn gene expression “on” and “off”. Furthermore, many researchers have also shown how epigenetic changes may accumulate and be inherited somatically with cell division and even passed down through generations. Therefore, epigenetic changes may occur without the need to change any of the DNA codes, yet, they may cause a profound effect by controlling gene expression throughout many levels of the living system. These underlying mechanisms are crucial for the environment’s effect on complex diseases. Some external factors may directly cause variances or even damage to the genome (e.g. UV, ionising radiation), and other sources may indirectly change gene expression by manipulating epigenetic changes. The exact molecular genetics behind epigenetic mechanisms are elaborate. However, we can generally find three common epigenetic mechanisms: DNA Methylation, Histone Modification, and Non-coding RNA. Although each method works differently, they achieve a common goal of promoting or silencing gene expression. All of these are done by the many molecular components of epigenetics, altering the genome without editing the gene sequence. We refer to the epigenome, which translates to “above the genome”, the genome itself and all the epigenetic modifiers that regulates gene expression on many levels. Environmental factors and exposure may influence epigenetic mechanisms, affecting gene expression in the cell or throughout the body, sometimes permanently. Therefore, it is clear how the epigenome may change throughout life as different individuals are exposed to numerous environmental factors. Furthermore, each individual may also have a unique epigenome. Depending on which tissues or cells are affected by these mechanisms, tissues or cells may even have a distinct epigenome, unlike the genome, which is theoretically identical in all cells. One example of this is the potential effects of DNA methylation on schizophrenia epidemiology. DNA methylation can silence genes via the enzymes DNA methyltransferases (DNMT), a family of enzymes capable of catalysing the addition of methyl groups directly into the DNA. The DNMT enzymes may methylate specific nucleotides on the gene, which usually would silence said gene. Many researchers have found that the dysregulation of DNA methylation may increase the risk towards the aetiology of numerous early onset neuro-developmental disorders. However, SCZ later-onset development also points towards the influence of environmental risk factors that target DNA methylation mechanisms. Studies show links between famines and SCZ increased prevalence, as the DNMT enzymes heavily rely on nutrients to supply essential amino acids. Malnutrition is thought to play a considerable role in DNA methylation changes and, therefore, the risk of SCZ. Small Piece of a Changing Puzzle Hopefully, we can see a bigger picture of the highly intricate foundation beneath complex diseases. Bear in mind that SCZ is only one of many complex diseases known. SCZ is ultimately not a pristine and impartial model to study complex disorders. For instance, concordance rates of complex diseases change depending on their genetic background. In addition, they may involve different mutations, variance, or dysregulation of differing pathways and epigenetic mechanisms. After all, complex diseases are complex. Finally, this article aimed to give a rundown of the epigenetics behind complex diseases like SCZ. However, it is only a snapshot compared to the larger world of the epigenome. Furthermore, some questions remain unanswered: the genetic background and architecture of complex diseases, and ways to study, diagnose, and treat complex diseases. This Scientia article is one of the articles in Scientia on the theme of complex disease science and genetics. Hopefully, this introductory article is an insight and can be used to reflect upon, especially when tackling more complicated subjects of complex diseases and precision medicine. Written by Stephanus Steven Related articles: Schizophrenia, Inflammation, and Accelerated Ageing / An Introduction to Epigenetics

This page features articles which tackle imminent health problems such as smoking, childhood obesity and depression, and pre-diabetes. Skin disease, Crohn's disease, anaemias, and endometriosis are also explored.  Medicine Articles This page features articles which tackle imminent health problems such as smoking, childhood obesity and depression, and pre-diabetes. Skin disease, Crohn's disease, anaemias, and endometriosis are also explored. You may also like: Dentistry , Biology Interventions for smoking cessation Public smoking health interventions The problem with childhood obesity What is childhood obesity? How many does it affect, and what can we do to tackle this? Pre-diabetes Pre-diabetes is the period before the onset of diabetes Anaemias Anaemia is a blood disease. Article #1 in a series about anaemia. Endometriosis breakthrough The latest breakthrough in endometriosis: the bacterium theory AI in medicinal chemistry How can it help the field? Depression in children And how we can help them Iron-deficiency anaemia Anaemia is a blood disease. Article #2 in a series about anaemia. The power of probiotics And how they are effective Blood: a vital fluid The role and importance of blood Smart bandages What are they and how can they be better than traditional bandages? Why whales don't get cancer Discussing from Peter's Paradox perspective Anaemia of chronic disease The second most-common anaemia. Article #3 in a series about anaemia. Erasing memory Is it possible to wipe your memories clean? Herpes vs. skin disease From foe to ally: a Herpes-based gene therapy treats dystrophic epidermolysis bullosa. Article #3 in a series on Rare diseases. The foremothers of gynaecology An International Women's Month collab with Publett Healthcare serial killers A disturbing reality The gut microbiome Also known as: the microbiota, gut microflora Crohn's disease A summary of the condition Sideroblastic anaemia A problem synthesising haem. Article #4 in a series about anaemia. Next

They are on the IUCN red list as 'vulnerable' Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Conservation of marine iguanas 09/07/25, 13:34 Last updated: Published: 06/01/24, 10:40 They are on the IUCN red list as 'vulnerable' The marine iguana ( Amblyrhynchus cristatus ), also known as the sea iguana, is a unique species. It is the world’s only ocean- going lizard. Their main food source is algae; large males can dive to forage for this source, while females feed during low tide. They can be found on rocky shorelines, but also on marshes, mangrove swamps and beaches of the Galapagos. Their range is limited to the Galapagos islands, so they are an isolated species. Currently, they are on the IUCN red list as ‘vulnerable’ with a current population estimated at 200,000, and conservation efforts are needed to stabilise populations. Key threats There are three key threats to iguana populations. The first is invasive species; animals such as pigs, dogs and cats feed on young hatchlings and iguana eggs, which reduces the long-term survival rate of the species. Marine iguanas have not yet developed defence strategies against these predators. Even humans introduce pathogens to the islands that pose a threat to the species, because of their isolated habitat, the marine iguana lacks immunity to many pathogens and so has a higher risk of contracting diseases. Climate change is another key threat. El Niño is a weather event that prevents cold, nutrient-rich waters, that the marine wildlife depends on, from reaching the Eastern Tropical Pacific. This depletes algae populations, and this food drop drastically reduces iguana populations ( Figure 1 ). With global warming, El Niño events are expected to be more prominent and more frequent. In addition, pollution from humans like oil spills and microplastics are damaging their habitat. Current and future conservation methods Under the laws of Ecuador, marine iguanas are completely protected. Their land range is in the Galapagos National Park, and their sea range is within the Galapagos Marine Reserve. They are also listed on the CITES, which ensures monitoring the trade of endangered animals to inhibit damage to their numbers. Sanctuaries are also in place to mitigate against extinction, but their specialised diet is challenging. So, what does the future hold for marine iguanas? The biggest challenge is the distribution of the species. The population is scattered across the different islands of the Galapagos as such, there are at least 11 subspecies. This brings more complications to marine iguana conservation. As these subspecies specialise, it becomes less likely they will breed, thus more difficult to maintain the species population. Introducing education and awareness programmes will better equip us to the dangers faced by marine iguanas and could be a tourism idea for the Galapagos. This species is one of a kind, which is why it is so important for them to be protected.There should be a monitoring scheme, as suggested by MacLeod and Steinfartz, 2016 ( Figure 2 ), but the location of these subspecies makes it difficult to monitor them. However, there was a recent study using drone-based methods which showed promising results ( Figure 3 ). The overarching question remains: do we continue to conserve the current population in the Galapagos, or should we relocate the species to a less endangered habitat. Written by Antonio Rodrigues Related articles: Conservation of Galapagos Tortoises / 55 years of vicuna conservation Project Gallery

Beyond sugarcane fields and dreamy beaches, Mauritius secures first place in mobile connectivity Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link Mauritius's rise as African leader of mobile networks Last updated: 08/06/25, 11:12 Published: 05/06/25, 07:00 Beyond sugarcane fields and dreamy beaches, Mauritius secures first place in mobile connectivity Background: GSMA ranking In the bustling capital city of Port Louis, commuters check the latest news updates using mobile data on their phones. Across the busy, connecting streets, a handful of tourists video call their family back home, asking them what souvenirs they would like- also on mobile data. Apart from idyllic holiday scenes and solid sugar exports, the island nation of Mauritius has recently become number one in Africa for mobile connectivity- as scored by the Global System for Mobile Communications Association (GSMA). The small island is now at the forefront of telecommunication development, with the increasing rollout of 5G networks. How did this touristic country become a leader in mobile connectivity? On the 13th of August 2024, the GSMA announced its yearly index for mobile connectivity. The GSMA looks at 41 African countries and ranks them based on: internet accessibility, prices of mobile devices, relevant services and political environments. Scoring 62.7 points out of the possible 100, Mauritius took the first spot, in front of South Africa. This result also places the island country 76th in the world. Remarkably, this is the third consecutive year that Mauritius is leading in mobile connectivity in Africa. Moreover Mauritius, with a population of 1.26 million, boasts an average of 1.7 phones per person, compared to only 1.2 phones per person in the US (according to 2023 data). Connecting the island: 5G is nearly everywhere Three companies provide mobile phone networks on Mauritius island: Emtel, MTML (Chili) and state-owned My.t. At present, 5G is widely available in Mauritius, thanks to Emtel supplying it to approximately 80% of the island for both residential and commercial usage. Though Emtel is the biggest network in the country, My.t is the most popular provider currently, and it also offers 5G to its users. A closer look at 4G and 5G 3G (and 3G High-Speed Packet Access, HSPA), 4G (Long Term Evolution, LTE) and 5G are wireless mobile networks, where the ‘G’ in these networks means ‘generation’ and indicates the strength of the signal on the mobile device. Hence, each mobile network is an improvement since the last generation of network. These mobile networks aim for high quality, reliable communication, and are based on radio signals. Each generation has evolved to achieve this. Table 1 compares the differences between all of these networks. The original 1G network from 1979 used analogue radio signals, while subsequent network generations use digital radio signals. Table 1: A comparison of 2G, 3G, 4G and 5G mobile networks 2G 3G HSPA+ 4G LTE 5G Speed 64Kbps 8Mbps 50Mbps 10Gbps Bandwidth 30- 200 kHz 15- 20 MHz 100 MHz 30- 300 GHz Features Better quality video calls than before Can send and receive larger emails Higher speeds and capacities Much faster speeds and capacities; high resolution video streaming SMS and MMS Larger capacities Low cost per bit Low latency Interactive multimedia, voice, video Allows remote control of operations e.g. vehicles, robots, medical procedures It is evident from Table 1 that not only have speeds and capacities increased with each generation, but new features have also been implemented such as video calls, interactive multimedia, streaming, and remote control of operations. Introduced in 2019, 5G is thought to be the most ambitious mobile phone network- almost revolutionary in its benefits since 1G. Usually, mobile carriers operate on a 4G LTE and 5G coexistence. This means that 5G phones can switch to 4G if 5G isn’t available in the region. Top of the tower- how? Since the 5G rollout in 2021, Mauritius has been enjoying the larger capacities and speeds of the network. The same question arises: how did this touristic country become a leader in mobile connectivity? There are several factors: - Tourist hotspot - Government initiatives - Improving local infrastructure - General advancements in mobile network technologies - High penetration rates and mobile ownership - Increasing number of connections - Geography Each factor will be considered in turn. Factor 1- Tourist hotspot Every year, Mauritius attracts visitors far and wide to enjoy its mesmerising beaches, luscious escapes and tantalising wildlife. Therefore, over time, mobile network technology has had to improve to meet the communicative needs of tourists. Put differently, tourism significantly supports the telecom industry on the island. Factor 2- Government initiatives As well as providing free, public WiFi hotspots around the island, the government is committed to bridging the digital divide and increasing access to all of its population. Thus, it was announced that, eligible citizens between the ages of 18 and 25 will receive a free, monthly mobile data package (with 4G and 5G capabilities)- starting from the 1st of September 2024. It is an endeavour to include young people in the government’s digital plans, i.e. digital inclusion. Factor 3- Improvements in local infrastructure In recent years, My.t and EmTel have been upgrading their equipment to ensure better coverage and access to 5G in the country. Infrastructure must have improved so that the three mobile operators on the island were granted the license for 5G rollout in June 2021. The current goal is to fully expand 5G coverage in Mauritius. Factor 4- General advancements in mobile network technologies Since its inception in 2019, 5G has had a profound impact on consumers around the globe with its low latency, high resolution streaming, and insanely high speeds and capacities. This pioneering mobile network has rolled out to millions of people, including the citizens of Mauritius island. The government has utilised this new technology to empower its people and pave a way for the country to become a leader in mobile connectivity. Factor 5- High penetration rates and mobile ownership Early 2025 data shows that the East African nation has over 2.1 million active mobile connections, when its population is half of that, a mere 1.261 million. (More mobile connections is not a usual thing as people may have separate connections for personal and work use, for example. Embedded SIMs – eSIMs- have made this possible recently). With this statistic, Mauritius has a high degree of mobile ownership and network connection density. Factor 6- An increase in the number of connections Another recent event is that the number of mobile connections in the nation has been increasing gradually: between 2024 and 2025, the number has increased by 1.9%. Factor 7- Geography It is known that less land- especially less rural land- makes deployment of cell phone towers and installation of masts much easier. Therefore, spanning an area of 2,040 squared kilometres, the main island of Mauritius can enjoy adequate mobile coverage- being one of the smallest African countries. Small island, big signal. To summarise, the above factors contribute to the number one ranking in mobile connectivity for Mauritius. What does Mauritius’s rise mean for the future? If these advancements in infrastructure and technology continue on the island, then there is a brighter outlook for the future. 5G coverage in Mauritius is on its way to completion, ensuring all districts have access to the latest mobile network. Geography, government initiatives, improvements in infrastructure by mobile operators, high number of mobile connections and ownership, are some of the factors that enabled 5G rollout in Mauritius in the first instance. Mauritius is leading by example to the other countries in Africa and is additionally performing well on the global stage for mobile networks. This small island country, usually known for its exotic sights and sugarcane landscape, is quickly overtaking its African neighbours in the race to become the leader in mobile phone connectivity. Written by Manisha Halkhoree Related articles: The future of semiconductor manufacturing / Wireless electricity Project Gallery

Conservation, diseases, animal behaviour, adaptation and survival. Expand your knowledge on the incredible diversity of life on Earth with these articles. Zoology Articles Conservation, diseases, animal behaviour, adaptation and survival. Expand your knowledge on the incredible diversity of life on Earth with these articles. You may also like: Biology , and Ecology Deception by African birds The species Dicrurus adsimilis uses deception by flexible alarm mimicry to target and carry out food-theft attempts An experiment on ochre stars Investigating the relative fitness of the species Pisaster ocharceus Orcinus orca A species report Rare zoonotic diseases We all know about COVID-19. But what about the other zoonotic diseases? Article #1 in a series on Rare diseases. Marine iguanas Their conservation The cost of coats 55 years of vicuna conservation in South America. Article #1 in a series on animal conservation around the world. Conserving the California condor These birds live on the west coast of North America. Article #2 in a series on animal conservation around the world. Emperor penguins Kings of ice. Article #6 in a series on animal conservation around the world. Protecting rock-wallabies in Australia A group of 25 animal species, and subspecies related to kangaroos. Article #7 in a series on animal conservation around the world. Do other animals get periods? Looking at menstruation in non-human animals e.g. monkeys, bats Same-sex attraction in non-human animals SSSB in birds, mammals, and invertebrates Changing sex in fish Why some fish change sex during their lifetimes

Rising temperatures can affect brain health Facebook X (Twitter) WhatsApp LinkedIn Pinterest Copy link The Brain-Climate Connection: The Hidden Impact of Rising Temperatures 19/06/25, 10:14 Last updated: Published: 24/05/23, 09:55 Rising temperatures can affect brain health Global warming is not only disrupting ecosystems, affecting the food we eat and the air we breathe, but it’s also impacting our neurological health. According to the 2022 Global Climate Report from NOAA National Centers for Environmental Information , 2022 was the sixth warmest year since 1880. To understand this better, let’s start with the basics. The brain is made up of billions of tiny cells called neurons that communicate with each other by generating electrochemical signals. Think of neurons as small batteries capable of producing electricity when triggered by electrically charged chemicals, called ions. When a neuron is at rest, so when it’s not transmitting an electrical signal, it maintains a negative charge inside compared to the outside. This difference in charge is created by the selective movement of ions across the neuron’s membrane through ion channels and pumps. The resting membrane potential of a neuron is typically around -70 millivolts (mV). When a neuron needs to send information, it generates electrical activity called action potential , which causes the electrical charge to become less negative and closer to zero. To trigger a full-sized action potential, the electrical charge needs to reach a threshold of approximately -55 mV. If the charge reaches this threshold, a full-sized action potential is triggered and the neuron will send a signal down to other neurons. However, if the electrical charge does not reach this threshold, the neuron will not send a signal at all. This is known as the “ALL OR NONE” principle. The action potential is a crucial part of the neuron’s communication process, as it allows the neuron to send signals quickly and efficiently to other neurons. But here’s the catch: temperature fluctuations can affect the ion channels that generate and propagate action potentials, which are critical for the neuron’s communication process. It turns out that an increase in temperature can influence the generation , speed , and duration of action potentials. But that’s not all! Hotter temperatures can trigger seizures in individuals with epilepsy or a history of seizures. One of the most concerning findings from scientific research is that climate change, among other factors, may contribute to an increase in seizure severity and frequency, as well as the development of cerebrovascular and neurodegenerative diseases, such as strokes or dementia . Triggering stress and sleep deprivation, heat waves can also exacerbate the symptoms of such pre-existing disorders. The good news is that we can take action to address the direct impact of climate change on our planet and health. Joining initiatives like Climatematch Academy (CMA) , a 2-week interactive online summer school, can help you learn more about climate science and become part of a global community that is working towards a more sustainable future. CMA is an all-volunteer organization run by dozens of science enthusiasts. It aims at introducing computational methods for climate science taking advantage of available open-source tools and datasets to make science accessible to students worldwide. This is your chance to learn cutting-edge techniques from climate science experts and make a difference in the world, ensuring a brighter future for ourselves and future generations. Written by Viviana Greco Related articles: The environmental impact of EVs / Emperor penguins / Impacts of global warming on NTDs Project Gallery