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Physiology

Pleuritic Chest Pain, Other Vague Symptoms — What Could It Be? – MedPage Today

A 44-year-old otherwise healthy man presents to an emergency department in Baltimore, noting that for the past 24 hours he has had a sharp pain in his chest that worsens when he breathes deeply. He says he is also short of breath even when he is at rest, feels feverish, and is having chills.

The patient has no past medical conditions to explain these symptoms. Initial assessment reveals sinus tachycardia with rates of 140 to 150 seconds and a blood pressure of 143/73 mm Hg. Physical examination identifies a large pericardial friction rub.

Clinicians perform a preliminary electrocardiogram (ECG) that reveals sinus tachycardia, frequent premature ventricular contractions of outflow tract morphology, and mild diffuse ST elevations with PR segment depression.

Results of laboratory tests are notable for leukocytosis of 12,000 cells/mm3 and elevated C-reactive protein of 206.0 mg/L. Clinicians order a chest x-ray that shows mild cardiomegaly, but there is no sign of pulmonary edema.

Subsequently, an echocardiogram demonstrates a small pericardial effusion, thus fulfilling the diagnostic criteria for acute pericarditis.

The patient is started on treatment with colchicine and ibuprofen. However, his symptoms do not improve and he undergoes several transthoracic echocardiograms (TTE) over the next 4 days. Imaging reveals an enlarging circumferential pericardial effusion and with depressed ejection fraction of 40%-45%, without evidence of tamponade.

Echocardiogram showing large pericardial effusion, without evidence of tamponade physiology.

Day 5

Pericardiocentesis is performed resulting in drainage of 450 cc of straw-colored fluid. Analysis shows 100,000 white blood cells with neutrophilic predominance. Placement of a pericardial drain removes an additional 450 mL of fluid over the following 48 hours, and clinicians then remove the drain.

Fluid culture findings included polymicrobial growth of Micromonas micro, Prevotella intermedia, and Fusobacterium species, all anaerobic flora of the oral cavity, and treatment is started with ceftriaxone.

Day 8

Within 48 hours of the removal of the pericardial drain, a repeat TTE shows that pericardial fluid has re-accumulated, and there is partial diastolic collapse of right atrial and right ventricular, indicating echocardiographic tamponade.

The patient's systolic blood pressure is noted to have fallen by 30 mm Hg. Urgent pericardiocentesis is performed, removing 550 mL of purulent thick fluid that, again, has a high white blood cell count, consistent with purulent pericarditis.

Day 9

A repeat TTE the following day shows no further re-accumulation of fluid. However, a few hours later, a transesophageal echocardiogram (TEE) and subsequent computed tomography (CT) scan of the chest shows that pericardial fluid is indeed again re-accumulating.

On the mediastinal-view scan, clinicians also note evidence of gas in the pericardium with an enhancing rim suggestive of infection, along with evidence of new nodules in the lungs that raise concern for septic emboli. A repeat echocardiogram shows large, echo-dense circumferential pericardial effusion, as well as "septal bounce" suggestive of constrictive physiology.

Clinicians decide that the patient requires a pericardial window, and perform another TEE prior to the surgery, with the results consistent with tamponade physiology.

The pericardial window procedure is completed, and 750 cc of pus is removed under pressure. The esophagram is negative, confirming there is no path from the upper gastrointestinal tract to the pericardial area.

Day 10 Follow-up

Blood cultures drawn on days 1, 8, and 10 indicate that the patient was never bacteremic. Likewise, an extensive infectious work-up was negative, consistent with primary pericarditis. The patient is discharged with 4 weeks of intravenous ceftriaxone from the time of the pericardial window, and he subsequently has a full clinical recovery.

Discussion

Clinicians reporting this case of primary bacterial purulent pericarditis with cardiac tamponade in a healthy immunocompetent adult male note that this is a rare phenomenon, virtually unheard of in immunocompetent patients without underlying infection.

Because acute bacterial purulent pericarditis can progress rapidly into cardiac tamponade, early diagnosis and treatment are critical to reduce mortality and improve clinical outcomes. Of patients who do receive treatment, about 40% develop fatal cardiac tamponade, constrictive pericarditis, and septic shock.

The case authors note that most cases of acute pericarditis are of an unknown etiology, which may or may not be infectious in nature. However, bacteria -- usually gram-positive cocci -- have been reported as the cause of spontaneous pericarditis leading to clinical and echocardiographic tamponade. For instance, while a bacterial cause was identified in up to a third of purulent pericarditis cases in a 1977 study, the rate of gram-positive bacteria as the cause of bacterial pericarditis has fallen slowly with increasing use of antibiotics.

Similarly, a 20-year retrospective review published in 1993 by researchers in Spain reported a bacterial cause of pericarditis in about 5.5% of cases, 42% of which were diagnosed postmortem.

The anaerobic bacteria implicated in cases of purulent pericarditis were most commonly Peptostreptococcus, Clostridium, Fusiform, Bifidobacterium, and Actinomyces spp.

Risk factors for purulent pericarditis have notably been alcohol abuse, immunosuppression, and chest trauma. However, the case authors note that none of these applied to this patient, whose pericarditis was due to normal flora from the oropharynx.

Most commonly, patients develop a secondary bacterial pericarditis as either an extension of infection from within the thorax, through hematologic spread if the patient is bacteremic, direct inoculation via trauma, or spread from site of infection within the heart.

Complications

As in this case, patients with purulent pericarditis may develop complications such as cardiac tamponade and constrictive pericarditis; additional complications include aortic mycotic aneurysms and left ventricular pseudoaneurysms.

Purulent pericarditis generally presents with non-specific symptoms such as fever and chills. Clinicians reporting this case note that although this patient had pleuritic chest pain, pericardial friction rub, and diffuse ST segment elevation, these symptoms may be seen more commonly in pericarditis with a viral rather than a bacterial cause.

Suspected cases of bacterial pericarditis should immediately receive an echocardiogram to evaluate for cardiac tamponade. Echocardiographic signs of tamponade, such as diastolic collapse of the right ventricle, can precede clinical symptoms of tamponade, the case authors note. They advise urgent pericardiocentesis to relieve pressure and analysis of the pericardial aspirate for cytology examination, as well as bacterial and fungal cultures. Despite initial pericardiocentesis, 40% of patients ultimately require a surgical pericardial window.

Although there have been reports of cases of bacterial pericarditis that involved Fusiform species, there have been only two documented cases of Prevotella, both in patients receiving cancer chemotherapy.

Early antibiotic treatment is necessary to prevent recurrence of bacterial pericardial effusion, the authors note, adding that oral anaerobic bacteria are generally sensitive to beta-lactam antibiotics. This patient was successfully treated with 4 weeks of intravenous ceftriaxone.

Conclusions

The authors conclude that when patients present with non-specific symptoms and pleuritic chest pain, clinicians should have a high level of suspicion for purulent pericarditis due to its high level of mortality.

Last Updated March 09, 2020

Disclosures

The case report authors noted no conflicts of interest.

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Pleuritic Chest Pain, Other Vague Symptoms -- What Could It Be? - MedPage Today

Physiology

Introducing the Life in Extreme Environments Collection – PLoS Blogs

Written by Daniel Colman (Guest Editor, Montana State University), Ruth Blake (Guest Editor, Yale University) and Hanna Landenmark (Associate Editor, PLOS ONE).

We are delighted to introduce a Collection entitled Life in Extreme Environments, consisting of papers published in PLOS Biology and PLOS ONE. This interdisciplinary Collection helps us better understand the diversity of life on Earth in addition to the biological processes, geochemistry, and nutrient cycling taking place in many of the Earths most inhospitable environments, while also enabling us to make inferences about the potential for life beyond Earth. Microorganisms and other life in extreme environments are fundamental agents of geochemical and nutrient cycling in many of the most poorly understood environments on Earth. While we tend to think of these environments as lying at the boundaries of what life is capable of dealing with, many organisms are uniquely adapted to thrive in habitats at the extremes of temperatures, pressures, water availability, salinity, and other environmental characteristics. Indeed, these environments are certainly not extreme to these organisms, but represent their unique niches within ecosystems on Earth. The papers included in this Collection bring together research from different disciplines including the biosciences, geosciences, planetary sciences, and oceanography in order to shed light on this crucial topic.

We are immensely grateful to our Guest Editor team- Paola Di Donato (Universit degli Studi di Napoli Parthenope), Jiasong Fang (Hawaii Pacific University), David Pearce (Northumbria University), Anna Metaxas (Dalhousie University), Henrik Sass (Cardiff University), Ruth Blake (Yale University), Daniel Colman (Montana State University), Karen Olsson-Francis (The Open University), Frank Reith (The University of Adelaide), Felipe Gmez (Centro de Astrobiologa, Instituto Nacional de Tcnica Aeronutica)- for curating this Collection.

The importance of studying life in extreme environments

It is important to study life in extreme environments in order to establish lifes limits both physical and geographic (e.g., the depth of life beneath the seafloor), as well as the capacity of life to withstand and adapt to change. Besides significantly expanding our understanding of the limits of familiar and extreme life on Earth, studies in extreme environments have also revised our understanding of the nature of the earliest life on our planet, as well as providing the possibility of discovering new industrially useful organisms or biological products. Moreover, if there is life on other planetary bodies in our solar system or elsewhere, they will almost certainly be living in what we consider extreme environments on Earth. Thus, understanding how life copes with what we consider extreme conditions can provide insight into how life may be able to persist on other planetary bodies, perhaps in the subsurface oceans of Saturns moon, Enceladus, or Jupiters moon, Europa.

Investigating extreme life

One of the most exciting aspects of researching extreme life is the exploration of the unknown and discovery of new things in unexpected places that expands our very way of thinking. Microbial life, in particular, has evolved to find a way to exist and even thrive pretty much everywhere we have looked so far.Moreover, contemporary research of extremophiles is happening at an exciting time when the lines between scientific fields have been increasingly blurred. The more we understand about how environments not only influence life in extreme environments, but how life also influences those environments, the more apparent it becomes that extreme ecosystems are dynamic systems with feedback between biological activities and ecosystem properties. These interdisciplinary perspectives certainly invigorate the study of extreme life.

Extremophile research is often interdisciplinary by nature, perhaps due to the close association with biological organisms and their ecosystems, and thus the need to consider environmental, geologic, ecological, physiological, and even evolutionary considerations when investigating how organisms are able to push the limits of life. The challenges can be considerable due to the need to integrate across many disciplines, which requires expertise in a number of areas (and requiring scientists across disciplines to productively engage one another). But the reward for conducting this type of research is that it can transform how we view the relationships between living organisms and their environments. These insights can be profound in terms of our understanding of organismal biology and broader evolutionary processes of adaptation.

Yet, by their very nature, extreme environments pose significant challenges for studying biological life within them. This can be due to their remote locations (e.g., deep sea environments, high altitude environments), or to specific dangers associated with studying them (e.g., geothermal fields or other volcanic environments). Indeed, the reason that these environments are considered extreme is because they are not amenable to humans spending much time within them. It takes serious dedication and preparation to execute scientific research under such conditions.

The future of extremophile research

The last 30-40 years have reshaped our understanding of life in extreme environments, but much remains to be discovered. As one example, were still only beginning to understand what types of microbial life can exist in extreme environments, let alone what the physiological adaptations of these organisms might be. One of the greatest questions in the study of life in extreme environments i whether life is present in other extreme environments of the Universe beyond our planet. While we cannot know whether answers to this question will be forthcoming in the near future, great strides are being made in pointing us in what may be the most likely directions.

The Life in Extreme Environments Collection

This Collection showcases a wide variety of research on how life, from microorganisms like bacteria, archaea, diatoms, and algae, through to macroorganisms like humans, survive and flourish in diverse extreme environments, ranging from hydrothermal vents and the deep ocean to permafrosts and hypersaline lakes, and from the high Andes to deep space. Many papers illustrate highly interdisciplinary approaches and collaborations, and provide important insights into the limits of life on Earth in truly extreme environments. As indicated above, extremophiles provide insight into far-ranging topics like the limits of life on Earth, biogeochemical cycling in extreme but globally important environments, insights into early life on Earth, and how organisms cope with conditions that push the boundaries of organismal physiology.

A critical component of extremophile research is understanding how extremophiles are distributed across environments in both contemporary settings as well as over geologic time. Serpentinizing environments are considered to be analogs for the environments where life originated on Earth (and that may also support life on other planetary bodies). The investigation of fully serpentinized rocks by Khilyas et al. document the endolithic (i.e., within-rock dwelling) microbial diversity within these unique environments, their associations with their mineral environments, and contrast their findings with those of active serpentinizing aqueous environments. Such studies examining the connection between extreme environments and their native microbiomes can be critical for understanding how organisms have and continue to interact with their environments over time. Another study in the Collection by Kiel and Peckmann provides new insights into the association of macrofauna with hydrothermal vents over the past ~550 million years. Their survey of dominant brachiopod and bivalve fossils over this period challenge the pre-existing hypotheses that these two groups competed for the same resources, with the latter group ultimately gaining prominence in the last ~100 million years. However, the authors show that the two groups likely inhabited different vent environments altogether, with brachiopods inhabiting hydrocarbon seeps and bivalves preferring sulfide-producing vents in association with their symbiotic sulfide oxidizing bacteria. To better understand the contemporary distributions of important marine microorganisms, Ferreira da Silva et al. documented how diatom communities are associated with macroalgae in the waters near the South Shetland Islands of Antarctica, revealing a potential role of the unique Antarctic climate in determining the biogeography of diatoms and their associated macroalgae. Indeed, the relationships among organisms may be critical for the habitation of extreme environments. In another investigation of cross-taxa associations in extreme environments, Gallet et al. evaluated the diversity of microbiota associated with enigmatic bioluminescent lantern fish species, and found that the latter might interact with its microbiome to inhabit the extreme environment of deep southern oceans. The data provide a better understanding of these important associations in key species involved in the ecosystem function of extreme deep sea environments.

Although extreme environments are often considered marginal habitats of mostly local influence, the functions of some extreme environments, and the organisms inhabiting them, can have particularly important implications for global biogeochemical cycling. For example, Nayak et al. document new insights into the functioning of one of the most important microbial enzymes involved in global carbon cycling, the methyl-coenzyme M reductase protein of methanogens, which catalyzes the key step of methanogenesis allowing the biological production of methane, which contributes to a significant portion of global methane production. In the authors investigation, they show how the protein is post-translationally modified by a previously unknown mechanism, and that this tuning of methyl-coenzyme M reductase has profound impacts on the adaptation of methanogens to various environmental conditions. Anoxic peatlands are one such environment where methanogens play critical roles in biogeochemical cycling. These anoxic peatland environments are extreme environments that are important for global biogeochemical cycling, despite only occupying a small fraction of the total land space. Kluber et al. used an experimental warming approach to investigate how deep, anoxic peatland reserves would respond to fluctuating environmental conditions. The authors document that temperature is a key parameter that could drastically affect the decomposition of peatland nutrient stocks and their contribution to global biogeochemical cycling.

Key to the interaction between organisms and extreme environments are the adaptations that extreme environments impose upon organisms. The Collection features a number of investigations documenting the unique adaptations of microorganisms and macroorganisms to habitats ranging from hydrothermal vents to space at both the genomic and physiological levels. One of the most enigmatic discoveries of extreme environments over the past half century was the identification of entire ecosystems that dwell on or around hydrothermal vents at the ocean floor that are sustained by inorganic chemical synthesis from hydrothermal vent fluid chemicals. The paper within this Collection by Zhu et al. provides new evidence for the genetic mechanisms that allow the habitation of vent ecosystems by two distinct shrimp species that characteristically inhabit different thermal regions of vents. Using transcriptomic approaches, the authors identified new molecular mechanisms underlying how macrofauna can adapt to different hydrothermal niches within these extreme systems. Likewise, Daz-Riao et al. used transcriptomics to identify the mechanisms of ultraviolet radiation resistance (UVR) within high UVR bacterial strains that were isolated from high altitudes within the Colombian Andes. These new insights provide much needed resolution into the RNA-based regulatory mechanisms underlying UVR in organisms, which represents a fundamental knowledge-gap in our understanding of organismal adaptations to extreme altitude environments.

While life that persists continuously under extreme environments provide valuable information to understand the physiological limits of life, it is also critical to understand how life adapted to more normal environments can withstand excursions to extreme environments over prolonged periods of time. One such example are oxygen minimum zones that occur in deep oceans where oxygen levels have been depleted to levels thought to not be able to support higher life, in what is termed hypoxic conditions. Nevertheless, some higher organisms are capable of living in such environments, although their adaptations to this lifestyle are not currently clear. One such species is the bluntnose sixgill shark that can tolerate very low levels of oxygen. Using an array of biologging techniques that allowed them to monitor the physiological and behavioral activities of these sharks, Coffey et al. provide evidence for their migratory behavior and long periods of exposure to hypoxic conditions in the deep sea. In addition to elucidating how sixgill sharks cope with extreme deep sea conditions, the new ecophysiological logging techniques provide a new platform for future studies of organisms adapted to the extremes of deep oceans. Among the possible excursions of life to extreme environments, none are potentially more problematic than the travel of humans to space. A common physiological effect of space transit is the bone mineral density (BMD) loss that is experienced by astronauts. In a paper within the Collection, Axpe et al., performed a modeling analysis based on BMD loss by previous astronauts involved in long-term missions in order to evaluate the potential for these harmful effects on trips that might become targets for longer manned missions to Mars or elsewhere. The study thus provides critical new data to inform these important missions.

As exemplified by the papers within this Collection, unique adaptations allow life to persist in extreme environments. These adaptations can also be useful in biotechnological applications, as several other papers in the Collection demonstrate. Halophiles that inhabit extremely saline environments have long been a source for bioprospecting due to their unique adaptations that allow them to maintain osmotic balance within environments that most types of life could not survive in. Notably, halophiles often concentrate unique biomolecules in order to overcome the abiotic stress of hypersaline environments. In their manuscript, Abdollahnia et al. explore the previously little-investigated ability of halophiles to concentrate nanoparticles, finding evidence for the unique ability to concentrate metal nanoparticles within archaeal and bacterial species. Importantly, these organisms could represent a potential environmentally-friendly means of synthesizing unique metal nanoparticles. Thus, the identification of new bio-resources is an area of ongoing and intense interest in the investigation of extreme life.

As is evident by the diverse range of topics, organisms, and environments within the papers of this Collection, the investigation of extreme life incorporates numerous fields of study and a wealth of methods to understand the limits to life on Earth. Well be adding new papers to the Collection as they are published, so please do keep checking back.

Ruth Blake

Ruth Blake is a Professor in the departments of Geology & Geophysics and Environmental Engineering, and in the School of Forestry & Environmental Studies at Yale University. Dr. Blakes areas of expertise include marine biogeochemistry, stable isotope geochemistry and geomicrobiology. Her recent work focuses on developing new stable isotope tools, geochemical proxies and biomarkers to study marine/microbial phosphorus cycling and evolution of the phosphorus cycle from pre-biotic to recent.

Dr. Blake is engaged in a range of studies on co- evolution of earth and life and the impacts of both on biogeochemical processes occurring in the oceans, deep-sea sediments, seafloor hydrothermal systems and the sub-seafloor deep biosphere. Dr. Blake has participated in several ocean exploration/ research expeditions including cruises to: FeMO observatory at Loihi undersea volcano, 9N EPR, Orca Basin in the Gulf of Mexico and North Pond in the mid-Atlantic. She has also served as shipboard scientist on Ocean Drilling Program and R/V Atlantis /DSV ALVIN platforms. Ruth Blake graduated from the University of Michigan in 1998 with a PhD in geochemistry.

Daniel Colman

Dan is currently an assistant research professor at Montana State University and is an environmental microbiologist with primary research interests in broadly understanding how microbial populations interact with one another and with their environments. To investigate these broad topics, he uses a suite of interdisciplinary techniques at the intersection of environmental microbiology, biogeochemistry, geomicrobiology, microbial physiology, geochemistry, hydrology, and microbial evolution.

In particular, his work leverages environmental genomics methods coupled to in situ and laboratory experiments along with geochemical insights from hydrological and geochemical analyses to understand 1) how and why environments structure micobial communities, 2) how microbial communities shape their environments, and 3) how environments and microbial populations have co- evolved through time. In particular, he has largely focused on evaluating these questions in extreme environments, and especially hydrothermal systems, which represent an excellent platform to deconvolute microbial-environment relationships across substantial environmental gradients.

Paola Di Donato

Graduated in Chemistry, Paola received her PhD in 2002 and since 2008 she is a Researcher in Biochemistry at the Department of Science and Technology of University of Naples Parthenope; in 2016 she has been appointed as the Deans delegate to managing the Institutional Repository of the University Parthenope.

Her research interests are the valorisation of waste vegetable biomass and the study of extremophilic bacteria. With regard to the first topic, her research focuses on the recovery of value added chemicals (polysaccharides and polyphenols) and the production of energy (bioethanol) from wastes of vegetables food industry and of dedicated crops (giant reed, cardoon). With regard to the study of extremophilic bacteria, her research activity is aimed at studying the biotechnologically useful biomolecules (enzymes and exopolysaccharides) produced by these bacteria; in the last seven years, particular attention has been paid to the study of extremophiles in relation to Astrobiology, the multidisciplinary approach to the study of origin and evolution of life on Earth and in the Universe.

Felipe Gmez

Dr. Felipe Gmez is a senior staff scientist at the CAB. His research work focuses on the study of extreme environments, limits of life and, by extrapolation, development of habitability potential in adverse environments. He participates in Mars exploration space missions to search for traces of life and study the habitability potential of the red planet. He is currently part of the scientific team (Co-Investigator) of the Rover Environmental Monitoring Station (REMS) instrument aboard the NASA Curiosity-MSL rover that is studying the surface of Mars at this time. Dr. Felipe Gmez is Co-I of MEDA instrument that will be onboard Mars2020 NASA mission to Mars.

He has been part of the scientific team of several campaigns of astrobiological interest in studying different extreme environments. The project M.A.R.T.E. (Mars Analogue Research and Technology Development) began in 2003 and extended until 2006. Its principal investigator was Dr. Carol Stocker of NASA Ames Research Center. This project was funded by NASA within NASAs ASTEP program for the development of technology for future space missions. This project was developed with the collaboration of several institutions in the United States and CAB. It consisted in the study of the subterranean environment of the zone of origin of the Tinto River (Huelva) where several perforations were made (160 m deeper) until reaching the anoxic zone isolated from the surface. The ultimate goal of the project was the design and development of an automatic platform for drilling without direct human intervention (automatic drilling) on the surface of Mars. This project was the beginning of research into the development of automatic drilling instruments for this purpose. It was developed in three phases: first and second year with non-automatic perforations and in situ study of the samples that were obtained in real time. In the third year, the automatic platform was implemented.

Jiasong Fang

Jiasong Fang is a professor in the College of Natural and Computational Sciences of Hawaii Pacific University, Distinguished Chair Professor in the College of Marine Sciences of Shanghai Ocean University, and Director of the Shanghai Engineering Research Center of Hadal Science and Technology. Dr. Fang received his Ph.D. in oceanography from Texas A&M University and did his postdoctoral training at the Department of Microbiology of Miami University.

His scientific interests are primarily in the areas of high-pressure microbiology and biogeochemistry, focusing on piezophilic microorganisms and their role in mediating biogeochemical cycles in the deep ocean and the deep biosphere. He has co-authored 100 scientific publications.

Anna Metaxas

Dr. Anna Metaxas is a Professor in Oceanography at Dalhousie University. She received a B.Sc. in Biology from McGill University in 1986, a MSc in Oceanography from the University of British Columbia in 1989 and a PhD from Dalhousie University in 1994. She was a Postdoctoral Fellow at Harbor Branch Oceanographic Institution from 1995 to 1997, and a Postdoctoral Scholar at Woods Hole Oceanographic Institution from 1997 to 1999.

Her research focuses on the factors that regulate populations of benthic marine invertebrates, particularly early in their life history. She uses a combination of approaches, such as field sampling, laboratory experiments and mathematical modelling, to study organisms of ecological and economic importance, including invasive species. She has worked in a variety of habitats from shallow rocky subtidal regions to the deep-sea, including hydrothermal vents and deep- water corals, in temperate and tropical regions of the world. Her research has implications for marine conservation, such as the establishment and success of conservation areas for benthic populations.

Karen Olsson-Francis

Dr. Karen Olsson-Francis is a Senior Lecturer at the Open University, in the United Kingdom. Her research focuses on understanding the role that microorganisms play in biogeochemical cycling in extreme environments. She is interested in this from a diversity and functional prospective. In particular, she has focused on studying terrestrial analogue sites and utilizing this information to understand how, and where, potential evidence of life can be found elsewhere in the Solar System.

David Pearce

The underlying theme of David Pearces research is to use microbiology (and in particular novel molecular techniques applied to microbial ecology, microbial biodiversity and activity, environmental genomics, biogeochemical cycling and model extremophiles) to understand Polar ecosystem function and the potential for shifts in biogeochemical activity that may result from environmental change. He has taken the lead in the development of new frontiers of research in metagenomics, chemosynthetic communities, sediment sequestration of carbon and subglacial lake environments and have initiated new interdisciplinary approaches on the aerial environment (with chemists), ice nucleation activity (with physicists) and in the biogeochemistry of ice (with glaciologists).

Frank Reith

Frank Reith is an Associate Professor in geomicrobiology at the School of Biological Sciences at University of Adelaide and CSIRO Land and Water, where he heads the Microbes and Heavy Metal Research Group. He holds a PhD in Earth Sciences from the Australian National University. He is interested in microbial processes that affect metal cycling and the formation of new minerals. In turn, he also studies how microbes are affected by elevated concentrations of heavy metals in extreme environments. His particular interests lie in the biomediated cycling of noble/heavy metals, e.g., gold, silver, platinum, uranium, osmium and iridium.

An important aim of the fundamental processes understanding created by his research is to use it to develop tools for industry, e.g., biosensors and bioindicators for mineral exploration, as well as biotechnological methods for mineral processing and resource recovery from electronic waste. Thereby, his approach is highly multidisciplinary and covers field expeditions to remote corners of the Earth, synchrotron research, meta-genomic and proteomic approaches as well as statistical-, geochemical- and reactive transport modelling.

We were very saddened to hear of Franks passing before this Collection published. We are immensely grateful for his contributions to PLOS and to his field of research, as well as for his enthusiasm and kindness. Our thoughts go out to his family and friends.

Henrik Sass

Dr. Henrik Sass is senior lecturer in Geomicrobiology at the School of Earth and Ocean Sciences of Cardiff University. He received his PhD from the University of Oldenburg (Germany).

Henrik is a biogeochemist, geomicrobiologist and microbial physiologist with a special interest in anaerobic processes and the prokaryotes involved, such as the strictly anaerobic sulphate reducers and methanogens. He has been working on anaerobic metabolism and described new metabolic pathways in methanogens. One main topic of his research is life in the extreme environments, particularly life in the deep biosphere and in deep-sea anoxic brine lakes. These studies aim to reveal how anaerobes adapt to their particular ecological niches (e.g. oxygen tolerance of sulphate reducers). His work utilizes a range of different approaches including in situ activity measurements and the estimation of viable population sizes, but also culture-based laboratory experiments. Another aspect of his work has been the use of biomarkers, including dipicolinic acid for the detection of endospores in environmental samples.

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Introducing the Life in Extreme Environments Collection - PLoS Blogs

Physiology

UVA researchers discover why obesity causes high blood pressure and potential ways to fix – The Medical News

Researchers at the University of Virginia School of Medicine have discovered why obesity causes high blood pressure and identified potential ways of treating that form of high blood pressure.

The researchers have already confirmed their discovery in human tissue samples and used it to reverse high blood pressure in lab mice.

Our study identifies the cellular mechanisms that increase blood pressure in obesity, and shows that these mechanisms can be targeted for lowering the blood pressure. If we are able to design the appropriate compounds, we might be able to treat hypertension in obese patients."

Swapnil K. Sonkusare, Ph.D., lead researcher, UVA's Department of Molecular Physiology and Biological Physics and UVA's Robert M. Berne Cardiovascular Research Center

Obesity is a growing problem worldwide. The number of people considered obese has nearly tripled since 1975, and with obesity comes greater risk of cardiovascular disease, high blood pressure (hypertension) and stroke, among other health problems.

Small arteries in our body control blood pressure. Scientists have suspected that hypertension in obesity is related to problems in endothelial cells that line these small arteries. The reasons for this, however, have been unclear - until now.

Sonkusare and colleagues found that a protein on the membranes surrounding endothelial cells allows calcium to enter the cells and maintains normal blood pressure. Obesity, it turns out, affects this protein, called TRPV4, within tiny subsections of the cell membrane. Sonkusare calls these faulty subsections "pathological microdomains."

"Under healthy conditions, TRPV4 at these tiny microdomains helps maintain normal blood pressure. We, for the first time, show the sequence of events that lead to a harmful microenvironment for calcium entry through TRPV4," he said. "I think the concept of pathological microdomains is going to be very important not just for obesity-related studies but for studies of other cardiovascular disorders as well."

Obesity, the researchers found, increases the levels of peroxynitrite-making enzymes in the microdomains containing TRPV4. Peroxynitrite silences TRPV4 and lowers calcium entry into the cells. Without the proper amount of calcium, blood pressure goes up.

Sonkusare believes that targeting peroxynitrite or the enzymes that make it could be an effective way to treat and prevent high blood pressure in obesity, without the side effects that would come with trying to target TRPV4 itself.

"People asked me, 'Why don't you use a drug to directly activate TRPV4?' But TRPV4 is present in many other tissues, including brain, muscle and bladder," he explained. "So if you directly activate TRPV4, you will likely get undesirable side effects. The better approach would be to target the specific events that reduce TRPV4 function in obesity."

Sonkusare's discovery also may explain why attempts to use antioxidants to lower high blood pressure have not been very effective in clinical trials. This could be due to the lack of specificity of these antioxidants, he said. "We, for the first time, identify peroxynitrite as the precise oxidant molecule that increases blood pressure in obesity. The next step would be to design drugs that specifically target peroxynitrite and provide therapeutic benefit."

The discovery was made possible by innovative techniques developed in Sonkusare's lab. Researchers in his lab can visualize the calcium entry through TRPV4 in real time and use tools that enable the studies of microdomains. "Historically, researchers have studied larger blood vessels that don't control blood pressure," Sonkusare said. "Because of our unique techniques, we are able to study the microdomains in very small arteries that control the blood pressure. So our technical ability allows us to obtain these unique insights."

Sonkusare and his colleagues have described their discovery in the scientific journal Circulation. The research team consisted of Matteo Ottolini, Kwangseok Hong, Eric L. Cope, Zdravka Daneva, Leon J. DeLalio, Jennifer D. Sokolowski, Corina Marziano, Nhiem Y. Nguyen, Joachim Altschmied, Judith Haendeler, Scott R. Johnstone, Mohammad Y. Kalani, Min S. Park, Rakesh P. Patel, Wolfgang Liedtke, Brant E. Isakson and Sonkusare.

Source:

Journal reference:

Ottolini, M., et al. (2020) Local Peroxynitrite Impairs Endothelial TRPV4 Channels and Elevates Blood Pressure in Obesity. Circulation. doi.org/10.1161/CIRCULATIONAHA.119.043385.

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UVA researchers discover why obesity causes high blood pressure and potential ways to fix - The Medical News

Physiology

Baylor College of Medicine and UH team up for new research collaborations – The Medical News

Baylor College of Medicine and the University of Houston are teaming up for new research collaborations. The two Texas Medical Center member institutions have awarded grant funding for nine research projects, each with investigators from both schools, as part of a pilot program resulting from a 2019 Memorandum of Understanding between Baylor College of Medicine and UH to foster new partnerships and research collaborations.

The grants will give awardees $60,000 over 18 months, with each institution providing half the funding. The winners cover research in a wide variety of subjects, including oncology, cardiology, genetics, biochemistry, virology, ophthalmology, molecular biology, nutrition and health services.

Baylor College of Medicine and the University of Houston have unique strengths and resources that can contribute to an outstanding platform for population health and precision medicine. Nine excellent projects were selected from a very large and competitive pool. This joint research collaboration will greatly enhance scientific innovation and discovery that will benefit both our institutions and the city of Houston."

Dr. Ashok Balasubramanyam, vice president for academic integration at Baylor

"The impact of the synergy between the clinical research depth of Baylor and the fundamental and technological biomedical research of the University of Houston will be transformative," said Amr Elnashai, UH vice president for research and technology transfer. "The cohesion of the two research visions was demonstrated from the very first meeting and continues to date. I cannot think of a better, more collaborative and capable research partner than Baylor."

The full list of winners is:

Posted in: Medical Science News

Tags: Biochemistry, Bryostatin, Cancer, Cardiology, Cataract, Cell, Cellular Biology, Evolution, Exercise, Exosome, Eye, Genetics, Genome, Heart, HIV, HIV-1, Hydrogel, Induced Pluripotent Stem Cells, Medicinal Chemistry, Medicine, Microbiology, Microbiome, Molecular Biology, Nutrition, Oncology, Ophthalmology, Pediatrics, pH, Pharmacology, Physiology, Progenitor Cells, Research, Stem Cells, Surgery, Telemedicine, Vascular, Virology

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Baylor College of Medicine and UH team up for new research collaborations - The Medical News

Physiology

UVA Discovers Why Obesity Causes High Blood Pressure and Potential Ways to Stop It – University of Virginia

Researchers at theUniversity of Virginia School of Medicinehave discovered why obesity causes high blood pressure and identified potential ways of treating that form of high blood pressure.

The researchers have already confirmed their discovery in human tissue samples and used it to reverse high blood pressure in lab mice.

Our study identifies the cellular mechanisms that increase blood pressure in obesity, and shows that these mechanisms can be targeted for lowering the blood pressure. If we are able to design the appropriate compounds, we might be able to treat hypertension in obese patients, said lead researcher Swapnil K. Sonkusare of UVAs Department of Molecular Physiology and Biological Physics and UVAs Robert M. Berne Cardiovascular Research Center.

Obesity is a growing problem worldwide. The number of people considered obese has nearly tripled since 1975, and with obesity comes greater risk of cardiovascular disease, high blood pressure (hypertension) and stroke, among other health problems.

Small arteries in our body control blood pressure. Scientists have suspected that hypertension in obesity is related to problems in endothelial cells that line these small arteries. The reasons for this, however, have been unclear until now.

Sonkusare and colleagues found that a protein on the membranes surrounding endothelial cells allows calcium to enter the cells and maintains normal blood pressure. Obesity, it turns out, affects this protein, called TRPV4, within tiny subsections of the cell membrane. Sonkusare calls these faulty subsections pathological microdomains.

Under healthy conditions, TRPV4 at these tiny microdomains helps maintain normal blood pressure. We, for the first time, show the sequence of events that lead to a harmful microenvironment for calcium entry through TRPV4, he said. I think the concept of pathological microdomains is going to be very important not just for obesity-related studies, but for studies of other cardiovascular disorders as well.

Obesity, the researchers found, increases the levels of peroxynitrite-making enzymes in the microdomains containing TRPV4. Peroxynitrite silences TRPV4 and lowers calcium entry into the cells. Without the proper amount of calcium, blood pressure goes up.

Sonkusare believes that targeting peroxynitrite or the enzymes that make it could be an effective way to treat and prevent high blood pressure in obesity, without the side effects that would come with trying to target TRPV4 itself.

People asked me, Why dont you use a drug to directly activate TRPV4? But TRPV4 is present in many other tissues, including brain, muscle and bladder, he explained. So if you directly activate TRPV4, you will likely get undesirable side effects. The better approach would be to target the specific events that reduce TRPV4 function in obesity.

Sonkusares discovery also may explain why attempts to use antioxidants to lower high blood pressure have not been very effective in clinical trials. This could be due to the lack of specificity of these antioxidants, he said. We, for the first time, identify peroxynitrite as the precise oxidant molecule that increases blood pressure in obesity. The next step would be to design drugs that specifically target peroxynitrite and provide therapeutic benefit.

The discovery was made possible by innovative techniques developed in Sonkusares lab. Researchers in his lab can visualize the calcium entry through TRPV4 in real time and use tools that enable the studies of microdomains.

Historically, researchers have studied larger blood vessels that dont control blood pressure, Sonkusare said. Because of our unique techniques, we are able to study the microdomains in very small arteries that control the blood pressure. So our technical ability allows us to obtain these unique insights.

Sonkusare and his colleagues have described their discovery in the scientific journal Circulation. The research team consisted of Matteo Ottolini, Kwangseok Hong, Eric L. Cope, Zdravka Daneva, Leon J. DeLalio, Jennifer D. Sokolowski, Corina Marziano, Nhiem Y. Nguyen, Joachim Altschmied, Judith Haendeler, Scott R. Johnstone, Mohammad Y. Kalani, Min S. Park, Rakesh P. Patel, Wolfgang Liedtke, Brant E. Isakson and Sonkusare.

The research was supported by the National Institutes of Health, grants HL142808, HL146914, HL138496 and HL088554; and the American Heart Association, grant 18POST33960212.

To keep up with the latest medical research news from UVA, subscribe to theMaking of Medicineblog.

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UVA Discovers Why Obesity Causes High Blood Pressure and Potential Ways to Stop It - University of Virginia

Genetics

Dr. Philip Leder, Harvard researcher who illuminated the role of genetics in cancer, dies at 85 – The Boston Globe

Dr. Leder, who more than 30 years ago became a co-holder of the first US patent on an animal, the OncoMouse, was 85 when he died Feb. 2 in his home in the Brookline part of Chestnut Hill of complications from Parkinsons disease.

In a tribute posted on a National Institutes of Health website, Dr. Michael M. Gottesman said Dr. Leder was among the worlds most accomplished molecular geneticists.

During Dr. Leders postdoctoral studies at the NIH in the early 1960s, he was recruited by Nirenberg to work on untangling the genetic code.

Their experiments definitively elucidated the triplet nature of the genetic code and culminated in its full deciphering helped set the stage for the revolution in molecular genetic research that Phil himself would continue to lead for the next three decades, wrote Gottesman, who is the NIHs deputy director for Intramural Research and chief of the Laboratory of Cell Biology at the Center for Cancer Research of the National Cancer Institute.

In a eulogy at Dr. Leders funeral, Dr. David Livingston, a Harvard geneticist, said he was brilliant, bold, very good-humored, and blessed with exceptional scientific insight and creativity.

Livingston, who had been Dr. Leders second research fellow at the NIH, added that early on, it became readily apparent that a natural eloquence infused his oral and written scientific discourse.

The groundbreaking research Dr. Leder and Nirenberg conducted came about in part because of the looming prospect of military service. Instead, he volunteered to serve in the US Public Health Service.

I got drafted, so I applied for a position in the Public Health Service, which supplied physicians and scientists to the National Institutes of Health in Bethesda, Dr. Leder said in a 2012 interview with a publication of the American Society for Biochemistry and Molecular Biology. A friend at NIH told me that I ought to meet Marshall Nirenberg because he was doing interesting experiments with the genetic code. Frankly, I didnt know anything about the genetic code. But I went to see Marshall, and he explained to me what he was doing and its importance.

Their research was in competition with work in another laboratory run by Severo Ochoa, a Nobel Prize-winner, and there was a mad race to the finish, Dr. Leder recalled.

I couldnt sleep for days at a time because of the excitement! I must admit it was very competitive; theres no question about that, he added. I would go to bed thinking about the next days experiments and then jump out of bed in the morning and rush to the laboratory. I stayed late at night. It was a lot of work but the intellectual excitement was enormous.

After about 18 years, Dr. Leder left the NIH at the outset of the 1980s to become founding chairman of Harvard Medical Schools department of genetics, where he stayed until 2008.

Working with Timothy Stewart in 1988, he was awarded the first patent on the OncoMouse, an animal genetically engineered to have a predisposition for cancer, which revolutionized the study and treatment of the disease, George Q. Daley, dean of the faculty of medicine at Harvard, said in a statement. Additionally, Phils research into Burkitts lymphoma was instrumental to understanding the origin of tumors with antibody-producing cells.

Dr. Leders many honors included the Albert Lasker Award for Basic Medical Research; the Heineken Prize from the Royal Netherlands Academy of Arts and Sciences; the US National Medal of Science; and the William Allan Medal from the American Society of Human Genetics.

For his many accomplishments, he was extremely modest. He really didnt like to talk about himself much, said his son Ben of Westwood. What he loved about science was the actual work, and thats what really motivated him.

Scientists such as Livingston, who worked with Dr. Leder early in their own careers, considered him a key mentor.

I shall miss Phil forever, Livingston said in his eulogy. Indeed, only rarely has a week passed when I havent thought of him. If the past is any prologue, my abiding hope will be that, when faced with a particularly potent scientific challenge, some of his mentoring magic will spontaneously take hold and point me in one of those special, Phil Leder-like directions.

Although Dr. Leders accomplishments were lasting, he began focusing more on family and subsequent generations as he neared and then entered his retirement years.

What a wonderful ride it has been, he wrote in 2001 for an anniversary report of his Harvard class. But I now see more clearly than ever before that whatever modest gift of knowledge my colleagues and I have been able to turn over to posterity, it has been poor by comparison to the thrill of seeing our grandchildren walk off into the future.

Born in Washington, D.C., on Nov. 19, 1934, Philip Leder grew up in Washington and in Arlington, Va., the only child of George Leder and Jacqueline Burke.

Dr. Leder graduated from Western High School in Washington and went to Harvard, from which he received a bachelors degree in 1956. He graduated from Harvard Medical School four years later.

In 1959, he married Aya Brudner. They had three children and worked together on research.

I continue to collaborate with my wife, Aya, in the remarkable field of molecular genetics, he wrote for the 40th anniversary report of his Harvard class. Lately, however, we find ourselves occasionally sneaking off to New Hampshire, where we have a second home, a canoe, snowshoes, and lots of opportunity to observe nature in real time.

A service has been held for Dr. Leder, who in addition to his wife, Aya, and son, Ben, leaves a daughter, Micki of Washington, D.C.; another son, Ethan of Bethesda, Md.; and eight grandchildren.

Ive discovered that great joy comes from grandchildren, Dr. Leder wrote 50 years after graduating from Harvard College.

Eight grandchildren, he added, can easily shrink a fairly successful career down to its appropriate proportions. In the next few years Ill retire from a life in genetics, which Ive loved, from the genetic code to the human genome. But I wont retire from those grandchildren, and I suspect that many of you feel exactly the same way.

Bryan Marquard can be reached at bryan.marquard@globe.com.

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Dr. Philip Leder, Harvard researcher who illuminated the role of genetics in cancer, dies at 85 - The Boston Globe

Genetics

Rapid genetic testing becomes available to Calgary medical community – CTV News

CALGARY -- When Madden Ellis Garraway was just under two-years-old, he became very sick.

His skin was so dry it bled and he couldnt hold down food, causing his weight dropped to within ounces of his birth weight of seven pounds, six ounces.

Doctors struggled to figure out what was wrong.

We had a large list of things that we were thinking of, and our immunology team and my colleagues who are working with Madden were having trouble arriving at the right one," said Dr. Francois Bernier, head of the Department of Medical Genetics and a professor in the Department of Paediatrics at the University of Calgary's Cumming School of Medicine.

"In fact, we made some attempts to arrive at a diagnosis but we're still unsure. It took a while.

Doctors often struggle with diagnosing unusual health issues, especially those that may require genetic testing.

They often must rely on genome sequencing tests to determine the root cause of a disease and until now, large-scale genome sequencing tests were often sent to labs in the United States for analysis.

Bernier calls it "the diagnostic odyssey," a long, difficult, journey for families waiting while cliniciansfigure out what is causing the underlying health issues.

Madden Garraway in hospital at the age of two. (Photo courtesy the Garraway family)

Maddens family can attest to that.

It was months of waiting, wondering and worrying before Madden's blood was sent to a U.S. lab for genome analysis, where it was learned he suffered from a rare genetic condition called immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome.

IPEX is a rare genetic disorder that can be life threatening.

"If we could have learned about that instantly, or within the several weeks that we can do now, that will save a lot of time," said Maddens father, Patrick Garraway.

"We could have got on with his bone marrow transplant sooner."

Madden received a bone marrow transplant from his sister. Now five-years-old, the playful youngster has made a full recovery and no longer requires medication.

"There are so many families waiting for answers to serious medical conditions," said Bernier.

"Access to gene sequencing early in the medical journey can pinpoint the best treatment approaches and therapies to target the illness."

Madden Garraway today at the age of five. (Photo courtesy the Garraway family)

A new partnership struck between the University of Calgary, University of Alberta, and Alberta Precision Laboratorieswill help families and medical professionalsanswer to those diagnostic puzzles sooner.

The partnership is funded by Genome Canada, the Alberta Childrens Hospital Foundation, and other partners. Four other centres in Canada are also undertaking similar programs through Genome Canadas funding, one in B.C., two in Ontario and one in Quebec.

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Rapid genetic testing becomes available to Calgary medical community - CTV News

Genetics

Scientists create new tool to study the genetic underpinnings of brain disorders – The Medical News

Scientists at the UNC School of Medicine and colleagues created a new computational tool called H-MAGMA to study the genetic underpinnings of nine brain disorders, including the identification of new genes associated with each disorder.

The research, published in Nature Neuroscience, revealed that genes associated with psychiatric disorders are typically expressed early in life, highlighting the likelihood of this early period of life as critical in the development of psychiatric illnesses. The researchers also discovered that neurodegenerative disorder-associated genes are expressed later in life. Lastly, the scientists linked these disorder-associated genes to specific brain cell types.

By using H-MAGMA, we were able to link non-coding variants to their target genes, a challenge that had previously limited scientists' ability to derive biologically meaningful hypotheses from genome-wide association studies of brain disorders. Additionally, we uncovered important biology underlying the genetics of brain disorders, and we think these molecular mechanisms could serve as potential targets for treatment."

Hyejung Won, PhD, study senior author, assistant professor of genetics at the UNC School of Medicine and member of the UNC Neuroscience Center

Brain disorders such as schizophrenia and Alzheimer's disease are among the most burdensome disorders worldwide. But there are few treatment options, largely due to our limited understanding of their genetics and neurobiological mechanisms. Genome-wide association studies (GWAS) have revolutionized our understanding of the genetic architecture related to many health conditions, including brain-related disorders. GWAS is a technique that allows researchers to compare genetic sequences of individuals with a particular trait - such as a disorder - to control subjects. Researchers do this by analyzing the genetic sequences of thousands of people.

"To date, we know of hundreds of genomic regions associated with a person's risk of developing a disorder," Won said. "However, understanding how those genetic variants impact health remained a challenge because the majority of the variants are located in regions of the genome that do not make proteins. They are called non-coding genetic variants. Thus, their specific roles have not been clearly defined."

Prior research suggested that while non-coding variants might not directly encode proteins, they can interact with and regulate gene expression. That is, these variants help regulate how genes create proteins, even though these variants do not directly lead to - or code for - the creation of proteins.

"Given the importance of non-coding variants, and that they make up a large proportion of GWAS findings, we sought to link them to the genes they interact with, using a map of chromatin interaction in the human brain," Won said. Chromatin is the tightly packed structure of DNA and proteins inside cells, folded in the nucleus in a way to maintain normal human health.

Won and colleagues used this map to identify genes and biological principles underlying nine different brain disorders, including psychiatric conditions such as schizophrenia, autism, depression, and bipolar disorder; and neurodegenerative disorders such as Alzheimer's, Parkinson's, amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS).

Using the computational tool H-MAGMA, Won and colleagues could link non-coding variants to their interacting genes - the genes already implicated in previous GWAS findings.

Another important question in brain disorders is to identify cellular etiology - the cells involved in the root cause of disease. This is especially critical as the brain is a complex organ with many different cell types that may act differently in response to treatment. In the attempt of finding critical cell types for each brain disorder, the researchers found that genes associated with psychiatric disorders are highly expressed in glutamatergic neurons, whereas genes associated with neurodegenerative disorders are highly expressed in glia, further demonstrating how the two disorder clusters diverge from each other.

"Moreover, we classified biological processes central to the disorders," Won said. "From this analysis, we found that the generation of new brain cells, transcriptional regulation, and immune response as being essential to many brain disorders."

Won and colleagues also generated a list of shared genes across psychiatric disorders to describe common biological principles that link psychiatric disorders.

"Amongst the shared genes, we once again identified the brain's early developmental process as being critical and upper layer neurons as being the fundamental cell-types involved," Won said "We unveiled the molecular mechanism that underscores how one gene can affect two or more psychiatric diseases."

H-MAGMA is publicly available so that the tool can be widely applicable and available to the genetics and neuroscience community to help expand research, with the ultimate goal of helping people who suffer with brain-related conditions.

Source:

Journal reference:

Sey, N.Y.A., et al. (2020) A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles. Nature Neuroscience. doi.org/10.1038/s41593-020-0603-0.

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Scientists create new tool to study the genetic underpinnings of brain disorders - The Medical News

Genetics

March: Predicting educational achievement | News and features – University of Bristol

Pupils' genetic data do not predict their educational outcomes with sufficient accuracy and shouldnt be used to design a genetically personalised curriculum or tailor teaching, according to a new University of Bristol study. The findings, which compared the genetic scores of 3,500 pupils with their exam results, are published in the journal eLife today [10 March].

Despite some claims that differences in pupils' genetic data could be used to 'personalise' their education or identify those who are likely to struggle or thrive at school, few studies have investigated how accurately genetic measures known as polygenic scores (which combine information from all genetic material across the entire genome) can predict future educational performance better than other measures of student aptitude.

To measure whether genetic data could predict a pupils achievement, researchers from the Bristol Medical School and the MRC Integrative Epidemiology Unit took genetic and educational data from 3,500 children in Bristols Children of the 90s study. They compared pupils polygenic scores with their educational exam results at ages 7, 11, 14 and 16.

Their analysis showed that while the genetic scores modestly predicted educational achievement at each age, these predictions were little better than using standard information known to predict educational outcomes, such as achievement at younger ages, parents educational attainment or family socioeconomic position.

Dr Tim Morris, the studys lead author and Senior Researcher Associate from Bristol Medical School, said: Our analysis shows that some pupils with a low polygenic score are very high performers at age 16. Some of those who would be predicted from their genes to be in the bottom 5% are actually in the top 5% of performers. This contradicts the notion that it is possible to accurately predict how well any one child will perform in education from their DNA.

At the population level, researchers found that children with higher polygenic scores, on average, had higher exam scores than those with lower polygenic scores. They add that polygenic scores can be informative for identifying group level differences, but they currently have no practical use for predicting individual educational performance or for personalised education.

Dr Morris added: Educational achievement is incredibly complex and influenced by a large range of factors including parental characteristics, family environment, personality, intelligence, genetics, teachers, peers and schools, and - often overlooked - chance or random events. This complexity will make it perhaps irresolvably difficult to accurately predict how well any one pupil will do from their DNA.

The best piece of information we currently have for predicting how well a pupil will perform is how well they did in school earlier in childhood. Where we don't know this, such as at the start of schooling, we can make better predictions about a pupils future educational performance by knowing how educated their parents are than by knowing their DNA.

The researchers conclude that genes are insufficient for reliably predicting educational achievement at an individual level. The study was funded by the Economic & Social Research Council [ESRC], the Medical Research Council [MRC] and the Wellcome Trust.

Paper

Can education be personalised using pupils genetic data? by Tim T Morris, Neil M Davies, and George Davey Smith in eLife

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March: Predicting educational achievement | News and features - University of Bristol

Anatomy

A million-dollar gift shines a spotlight on the Schneck Anatomy Lab – Temple University News

The right class inspires you for a lifetime. Thats how S. Jay Hirsh, MED 70, feels. Its why he donated $1 million to the Schneck Gross Anatomy Lab at the Lewis Katz School of Medicinea gift to the school that helped shape his career as a doctor.

His donation will create the S. Jay Hirsh, MD Endowed Anatomy Lab Fund, which will help ensure students in the lab always have access to the most sophisticated environment and tools for teaching and learning.

Named in honor of Carson D. Schneck, MED 59, 65, who taught at the Katz School of Medicine for five decades, the Gross Anatomy Labgross in this sense means largeis home to the first course medical students take at Temple and serves as their introduction to medical school as a whole.

Every day, for seven weeks, first-year students work their way across the human body in stages, from the limbs to body cavities to the head, dissecting specific regions one at a time.

There are no lectures. Instead, professors lead conferences in which students discuss medical cases that help put the anatomy they have studied into a clinical context.

Popoff teaches students in the lab. (Photo by Ryan S. Brandenberg)

We teach an anatomy course here that is really taught strictly from the basis of clinical correlation, said Steven N. Popoff, the John Franklin Huber Chair of Anatomy and Cell Biology at the Katz School of Medicine, who teaches in the lab.

Clinical correlation is an approach that encourages students to make diagnoses based on a combination of physical examinations, clinical findings, medical history and imaging results. Students dissect the head and neck, for example, then discuss diseases or injuries which affect the function of specific cranial nerves.

Theyre not just memorizing structure without having any context to put it in, Popoff said. Theyre learning anatomy thats then put into some form of clinical context.

Students receive a study guide and dissection manual developed by Temples faculty, and electronic copies of the Schneck Notes: More than 400 pages, written mostly by Schneck, that focus on the clinical relevance of the anatomy they study.

They are also taught how to look at anything from a simple X-ray to an MRI scan, becoming familiar with the imaging technology they will use as practicing doctors.

With imaging and computer programs an increasingly important part of teaching anatomy, Hirshs gift will support the labs investments in new technology and ensure its always ready to serve the next generation of students.

For a first course, Popoff said, [the lab] certainly gives them a real taste of medical school that sets it apart from previous educational experiences they have had.

Students consult electronic copies of their study guides and dissection manuals as they work. (Photo by Ryan S. Brandenberg)

Besides being their first class, the lab is also the first contact most students have with cadavers. I know a lot of students are timid at firstI definitely wasto pick up a scalpel and make that first incision, said Harrison Davis, a first-year medical student.

Theyre worried they might harm the body in front of them, even though the person isnt alive.

Not everybody wants to be a surgeon. Some people really love it. Every day they load the scalpel with a blade and they get right to it. And other people, thats not their thing, Davis said. A lot of students have to go past their comfort zone.

The cadaver is your first patient, said Anne Coyle, a second year. Working on one in the lab encourages you to figure out how to learn and get what you need from them and also make sure to respect who they are or were.

For Coyle, her hands-on experience in the lab was the turning point for her deciding to become a surgeon. Everything was so tangible, she said. The things in anatomy are things that Ill never forget learning.

The lab also changes the way students see the human body, a biological wonder we often take for granted.

Take the heart. Its pumping every single second of your life. But then youre actually seeing it in a persons body and holding it, Coyle said. For me it just takes it to a whole other level of connection.

No two bodies are completely alike. Every cadaver is different. Every persons anatomy is different, said Justin Ly, also a second-year student. They all have similar structures, but how they look on different body types is completely different.

For some medical students, anatomy class is a rite of passage. (Photo by Ryan S. Brandenberg)

In their fourth year, students can choose to go back into the lab for a refresher on what theyve learned and to specialize in the anatomy that interests them.

Everything else that you do in medical school, I think theres really not many instances where you dont think back to the organs in the body, or just the anatomy, said Anthony Coppola, a fourth year.

Its almost like a rite of passage, he said. When youre doing anatomy you feel like you truly are a medical student because youre doing something so different, something that not many students are privileged to get to do.

Working in the lab taught Hirsh a great deal besides anatomy. It taught me that I was now part of a group of very special men and women who were on a long journey to becoming a doctor, he said. It taught me companionship. It taught me family values, and it taught me to respect the body that we were working on.

He remembers all his teachers fondly, but Schneck, who had just begun his teaching career when Hirsh met him, stood out. He was an extremely brilliant gentleman who loved his work, Hirsh said. He knew how to teach, he knew what to teach. And he was like an encyclopedia.

Hirsh had wanted to make a significant gift to the Katz School of Medicine for a long time. It wasnt something new. It was something I always wanted to do, he said. Because Temple, this institution was the first institution that really made me believe that I was part of their family.

Thats something that got me through medical school, being, feeling like I was part of that place. It meant so much to me.

Make a gift to support the excellent medical education, research and clinical care at the Lewis Katz School of Medicine by visiting: giving.temple.edu/givetomed.

Edirin Oputu

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A million-dollar gift shines a spotlight on the Schneck Anatomy Lab - Temple University News