NIH creates Atlas of Human Malformation Syndromes in Diverse Populations

Photographic resource will aid diagnosing genomic diseases in patients of non-European ancestry.

Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can use the new atlas to diagnose diverse patients with inherited diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and descriptions of people with the same condition and ancestry. Previously, the only available diagnostic atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics of these diseases in patients from other parts of the world. The free electronic atlas was announced online in Genetics in Medicine.

“This atlas is long overdue and much needed,” said Daniel Kastner, M.D., Ph.D., NHGRI scientific director. “The impact of such a resource will be immediate and profound for all health care providers who are diagnosing and treating birth defects and genetic diseases in people of diverse ancestry.”

Congenital malformations, also known as birth defects, are the leading cause of infant deaths and diseases worldwide. Examples include heart defects, such as missing or misshaped valves; abnormal limbs, such as a clubfoot; neural tube defects, such as spina bifida; and problems related to the growth and development of the brain and spinal cord. Birth defects can be caused by genes not working properly, missing or extra chromosomes or mothers’ exposure to medications and chemicals during pregnancy.

“The atlas will enable health care providers to diagnose patients as early as possible,” said Maximilian Muenke, M.D., atlas co-creator and chief of NHGRI’s Medical Genetics Branch. “Once they have an accurate diagnosis, health care providers can provide better care and information for patients and their families.”

The first disorders added to the atlas are Down syndrome and 22q11.2 deletion syndrome. Down syndrome is the most common chromosomal condition, affecting roughly 1 in 1,000 babies worldwide and representing a diagnostic challenge for doctors. A feature of Down syndrome in persons of European descent is the skin fold of the upper eyelid, covering the inner corner of the eye. But these epicanthal eye folds are completely normal in people of Asian descent without Down syndrome, which means they are not a distinguishing characteristic. The 22q11.2 deletion syndrome, also known as velocardiofacial syndrome, affects 1 in 4,000 newborns and is characterized by a combination of cleft palate, heart defects, differences in the way the kidneys are formed or work, a characteristic facial appearance, learning problems, and speech and feeding problems.

When complete, the atlas will consist of photos of physical traits of people with many different inherited diseases around the world, including Asia, the Indian subcontinent, the Middle East, South America and sub-Saharan Africa. In addition to the photos, the atlas will include written descriptions of affected people and will be searchable by phenotype (a person’s traits), syndrome, continental region of residence and genomic/molecular diagnosis.

The need for the tool became evident after three clinical geneticists from NHGRI — Dr. Muenke, Paul Kruszka, M.D., and Adebowale Adeyemo, M.D. — visited children’s heart clinics in Africa. “We found ourselves struggling to diagnose the African children,” Dr. Kruszka said. “We were doing our best but we needed reference photos that didn’t exist.”

They were not the only ones with this problem. In Lagos, Nigeria, the three physicians presented sessions on clinical genetics (the practice of medicine focused on genetic disorders) to a standing-room-only audience. Afterward, they had discussions with a long line of doctors, many holding phones with photos of affected children they needed help diagnosing. Over dinner that night, the three cemented a plan to build the atlas.

Over the next year and a half, the group brought together a network of experts from China, India, Mali, the Middle East, Malaysia, Nigeria, Rwanda, South Africa, South America, Thailand and Uganda. From this group, NHGRI formed an advisory board to guide the project, maintain the website and oversee potential ethical issues.

Ethical issues

Before posting photos of diverse people affected by genetic diseases, the team requested an ethics consultation from the NHGRI Bioethics Core. Based on this input, health care providers sought permission from patients and their caregivers before contributing unpublished photos of affected patients to the atlas. Informed consent, the process of informing participants of the risks and benefits of contributing to the project, is tailored to local communities and translated and administered through the use of local interpreters.

“The job of the ethicist is to shed light on the aspects of the project that might harm the person sharing information, and to think about ways to reduce those risks,” said Sara C. Hull, Ph.D., director of the NHGRI Bioethics Core. “We wanted to weigh carefully those risks in light of the justice-oriented benefits of this important project.”

To ensure the atlas does not make mistaken connections between race, ethnicity and genetic diseases or reinforce stereotypes that were potentially harmful to different groups, health care providers are relying on participants’ descriptions of his or her four grandparents’ nationalities and about their ethnic and cultural identity. The photos and descriptive information included in the atlas are organized by disease and by continental ancestry, so a health care provider can compare their patient to someone of similar ancestral origin.

Now that the atlas is established, the next step is to inform physician communities — pediatricians, family physicians, internists, cardiologists, neurologists and craniofacial surgeons — about the atlas, said Dr. Adeyemo, atlas co-founder and deputy director of the NIH Center for Research on Genomics and Global Health.

“This project was born out of a real need,” Dr. Adeyemo said. “The doctors who approached us after our talks in Nigeria, the ones who regularly send us photos of affected children and our clinical colleagues seeing patients in Africa, Asia and South America will now have the help they need to diagnose their patients.”

NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: http://www.genome.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

NIH…Turning Discovery Into Health^®

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NIH creates Atlas of Human Malformation Syndromes in Diverse Populations

Abnormal brain interactions harm consciousness

Over the past few years, a great amount of scientific research has shown that even when the brain is "at rest" it still works. The brains of healthy people are organized into regions displaying similar activity, called resting-state networks.

There are two networks related to the perception of either the external world or internal thoughts. So far, much research on consciousness has focused on the activity within these networks, rather than how they communicate between each other.

An international research team has now investigated their interactions in different states of consciousness and has discovered that patients with severely impaired consciousness (disorders of consciousness, e.g. vegetative state/unresponsive wakefulness syndrome and minimally conscious state) show a pathological or uncontrolled communication between the two networks. Conversely, in patients who recovered from disorders of consciousness (patients known as emerging from minimally conscious state) the habitual interactions between networks are partially preserved, despite there being no difference in the connectivity within each network.

The study, published by the high-impact journal The Lancet Neurology, was led by Carol Di Perri, researcher at the Coma Science Group at Université de Liège (Belgium), and coordinated by Athena Demertzi, Steven Laureys (Coma Science Group) and Andrea Soddu from Western University (London, Ontario, Canada).

"Our findings cast light on the mechanisms underlying neural function necessary to emerge from impaired consciousness states and, more generally, on the importance of these network interactions in the emergence of higher cognitive functions," says Laureys, Director, Coma Science Group and principal investigator at the GIGA (Interdisciplinary Cluster for Applied Geno-proteomics) of Liège. "Such results will have relevant impact in the clinical setting and may lead to possible new therapeutic options."

According to Di Perri, previous research into disorders of consciousness predominantly focused on the connectivity breakdown within these networks, rather than their functional interactions.

"This study suggests that communication between networks is more important than connectivity within networks for cognitive functions necessary to emerge from disorders of consciousness," says Di Perri.

Soddu, an assistant professor at Western's Department of Physics and Astronomy and a member of the world-renowned Brain and Mind Institute, further explains, "This important discovery shows that the two neural networks interact in a competing ways within the human brain, making patients emerging from minimally conscious state swing between the perception of the external world and their internal thoughts in an integrated manner."

Source

« Neural correlates of consciousness in patients who have emerged from a minimally conscious state : a cross-sectional multimodal imaging study » Carol Di Perri, Mohamed Ali Bahri, Enrico Amico, Aurore Thibaut, Lizette Heine, Georgios Antonopoulos, Vanessa Charland-Verville, Sarah Wannez, Francisco Gomez,, Roland Hustinx, Luaba Tshibanda, Athena Demertzi, Andrea Soddu, Steven Laureys. Lancet Neurology.

llustration: The two networks related to the perception of the external world and internal thoughts (in blue and red respectively) show a pathological communication in disorders of consciousness.

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Marijuana use increases risks in pregnancy

Women using marijuana during pregnancy have an increased risk of spontaneous pre-term birth, according to new research.

Professor Lesley McCowan, HOD Obstetrics and Gynaecology.

“Women who continue to use marijuana at 20 weeks’ gestation are five times more likely to deliver pre-term than those who do not use it”, says University of Auckland Professor Lesley McCowan, a specialist in maternal fetal medicine and an author of the paper.

She says widespread legalisation of marijuana internationally had raised safety concerns for marijuana use in pregnancy and the research was conducted as part of the prospective international birth cohort study known as SCOPE (Screening for Pregnancy Endpoints).

Professor McCowan is the New Zealand lead investigator of the SCOPE study that aims to develop screening tests to predict small- for- gestational- age neonates, pre-eclampsia, and spontaneous pre-term birth.

The research into the effects of marijuana before and during pregnancy used detailed information about marijuana use from the SCOPE database and was published online early this week by website, Science Direct.

New Zealand’s involvement in the study was funded by the New Enterprise Research Fund and the Health Research Council NZ.

This latest research looked at pregnancy outcomes for 5588 women in their first ongoing pregnancy. They were interviewed at about 15 and 20 weeks of pregnancy.

From this cohort there were 236 women with spontaneous pre-term births. Pre-term birth is an important pregnancy complication as it is associated with risk of the baby dying after birth or suffering long term and costly health consequences.

Researchers found that although the numbers were small, continued marijuana use at 20 weeks by pregnant women was associated with spontaneous pre-term births, independent of whether the women smoked tobacco, and their socio-economic status.

“In this large group, maternal marijuana use was a major contribution to the risk of early birth and was consistent for cigarette smokers and non-smokers,” she says. “Of particular concern was that women who continued to use marijuana had a higher risk of delivering very pre-term when the risks of long term consequences for the baby are greatest.

“Our data indicate that increasing use of marijuana among young women of reproductive age may be a major public health concern in terms of early birth risk,” says Professor McCowan.

She says that 4.5 percent of the New Zealand participants in the SCOPE study reported using marijuana in the three months before pregnancy or during the first half of pregnancy.

The New Zealand Health Survey from 2012-2013 reports that 13 percent of women aged 25-34 years have used marijuana in the last 12 months and 42 percent of adults reported that had used it at some time, so marijuana usage is common in New Zealand.

“Women who use marijuana should be encouraged to quit prior to pregnancy or to stop as early as possible in the pregnancy, since continued use of marijuana at 20 weeks gestation is associated with a five-fold increase in risk of spontaneous pre-term birth.

“In the group of women that we looked at, we estimate a 6.2 percent reduction in the incidence of spontaneous pre-term birth is possible, if women are not exposed to marijuana during early pregnancy,” says Professor McCowan.

“In countries where authorities are considering decriminalisation of marijuana or have already done so, the risk to pregnant women and their babies needs greater consideration,” she says.

The New Zealand Health Survey from 2012-2013 reports that 13 percent of women aged 25-34 years have used marijuana in the last 12 months and 42 percent of adults reported thay had used it at some time, so marijuana usage is common in New Zealand.

Link to paper on Science Direct.

For media enquiries email Suzi Phillips, Media Relations, Medical and Health Sciences.

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Sleep loss in early childhood may contribute to the development of ADHD symptoms

DARIEN, IL – Short sleep duration may contribute to the development or worsening of hyperactivity and inattention during early childhood, suggests a research abstract that will be presented Tuesday, June 14, in Minneapolis, Minn., at SLEEP 2011, the 25th Anniversary Meeting of the Associated Professional Sleep Societies LLC (APSS).

Results show that less sleep in preschool-age children significantly predicted worse parent-reported hyperactivity and inattention at kindergarten.  In contrast, hyperactivity and inattention at preschool did not predict sleep duration at kindergarten.  The sample consisted of approximately 6,860 children, and analyses controlled for gender, ethnicity and family income.

“Children who were reported to sleep less in preschool were rated by their parents as more hyperactive and less attentive compared to their peers at kindergarten,” said lead author Erika Gaylor, PhD, senior researcher for SRI International, an independent, nonprofit research institute in Menlo Park, Calif.  “These findings suggest that some children who are not getting adequate sleep may be at risk for developing behavioral problems manifested by hyperactivity, impulsivity, and problems sitting still and paying attention.”

According to the authors, attention-deficit/hyperactivity disorder is not generally diagnosed until the school-age years.  However, the onset of developmentally inappropriate inattention, hyperactivity and impulsivity is often much younger.  Sleep problems, particularly difficulty falling asleep and staying asleep, are frequently reported in children and adolescents with ADHD. However, the direction of causation, if any, has been difficult to determine. Longitudinal studies may provide a window into the direction of this complex relationship.

The analyses used data from the preschool and kindergarten waves of the Early Childhood Longitudinal Study – Birth Cohort. The dataset includes a contemporary, representative sample of children and their families living in the U.S. and followed longitudinally from birth through kindergarten entry.  Total nighttime sleep duration was calculated using parent-reported bedtimes and wake times, which were obtained via interview at both time points. Parents also rated their children’s behavior on brief measures of attention/task persistence and hyperactivity/impulsivity.

Last year at SLEEP 2010, Gaylor reported that having a regular bedtime was the most consis­tent predictor of positive developmental outcomes at 4 years of age. Having an earlier bedtime also was predictive of higher scores for most developmental measures.

The SLEEP 2011 abstract supplement is available for download on the website of the journal SLEEP at http://ift.tt/1nRdY6x.

A joint venture of the American Academy of Sleep Medicine and the Sleep Research Society, the annual SLEEP meeting brings together an international body of more than 5,000 leading clinicians and scientists in the fields of sleep medicine and sleep research.  At SLEEP 2011 (www.sleepmeeting.org), more than 1,000 research abstract presentations will showcase new findings that contribute to the understanding of sleep and the effective diagnosis and treatment of sleep disorders such as insomnia, narcolepsy and sleep apnea.

Abstract Title: Attention and hyperactivity symptoms at kindergarten entry associated with less sleep in preschool
Abstract ID: 0803
Presentation Date: Tuesday, June 14, 2011
Presentation Type: Poster - #139
Presentation Time: 10:30 a.m. - 11:30 a.m.

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CONTACT: Doug Dusik, 630-737-9700 ext. 9345, [email protected]

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Sleep loss in early childhood may contribute to the development of ADHD symptoms

End-of-life care doctors consider patient & family needs when deciding to end treatment

The first Australian study on how end-of-life care doctors use the term “futile treatment” to make decisions on whether further treatment should be given when a person has no hope of recovery and death is near, has been published in the Medical Journal of Australia today.

Professor Ben White and Professor Lindy Willmott, directors of the Australian Centre for Health Law Research who were lead researchers on the study that interviewed 96 doctors in Brisbane from emergency, intensive care, palliative care and other areas which routinely involve end-of-life care.

The doctors were interviewed on instances where they had had to make decisions on medically deemed futile treatment.

“We found doctors’ concept of ‘futility’ centred on the quality of life and the prospect of the patient receiving some benefit from further treatment,” Professor White said.

“While the quality and length of life were linked, many doctors recalled instances where the benefit to the patient was determined by the quality of life alone.

“When considering benefit, doctors also took into account the physiological effects of further treatment on the patient as to whether it would be a burden, and the social benefits to the patient of having extra time with family and friends.”

Professor Willmott said more than 50 per cent of the doctors discussed situations where treatment was futile but justified.

“They spoke about family needs such as the short-term provision of treatment to allow relatives to gather,” Professor Willmott said.

“They also mentioned justifiable futile treatment that benefitted the patient by enabling them to fulfil a social role such as attending a wedding or seeing a new grandchild.

“Some doctors queried whether treatment could be termed ‘futile’ where such benefits to the patient or family justified treatment that was deemed medically futile.”

Professor Willmott said although futility was a concept familiar to the doctors, there was a high degree of variability as to how this term could be applied.

“Doctors must be aware of the subjectivity of futility when making end-of-life care decisions.

“Although they may decide that treatment is futile in discussion with patients and families a wider idea of patient benefit can emerge that justifies further treatment for a limited period and specific purpose.

“Because doctors put patient benefit as a key factor in determining futility, we concluded that talking with patients and their families about their values and goals is a critical part of decisions about limiting or stopping treatment.”

Media contact: Niki Widdowson, QUT Media, 07 3138 2999 or [email protected]

After hours: Rose Trapnell, 0407 585 901 or [email protected]

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Streamlined approach and treatments improve the quality of care for men with prostate cancer

The quality of prostate cancer care is improving according to new Monash University research published today in The Medical Journal of Australia.

The five-year collaborative study between Monash University and 33 health institutions across Victoria, capturing 75 per cent of men diagnosed with prostate cancer in Victoria, found that processes of care were markedly improved, suggesting that the feedback from quality indicators was clinically valuable.

“We know that quality indicators are valuable tools to enable benchmarking performance of hospitals and clinicians. Where there is confidence in the quality of the data, providing these indicators back to health services and doctors has been shown to drive quality improvement.

“It’s terrific to see through quality indicators that the outcomes for men with prostate cancer are good and becoming even better,” said Associate Professor Sue Evans, Head of the Clinical Registry Unit at Monash’s School of Public Health and Preventive Medicine, which houses the Movember-funded Australian Prostate Cancer Clinical Registry.

Prostate cancer continues to be the most commonly diagnosed cancer among Australian males. More than 18,000 Australian men are diagnosed with prostate cancer each year.

For men living with prostate cancer, there are a variety of treatment options now available. These vary according to the stage of disease at diagnosis but can include: active surveillance; hormone therapy; surgery; radiotherapy; or a combination of therapies.

“The Prostate Cancer Research International Active Surveillance (PRIAS) protocol guideline suggests men with low risk disease should be under active surveillance rather than receive immediate invasive treatment. Our Victorian research found the proportion of men with low risk disease who underwent active treatment declined over the five year period,” said Associate Professor Evans.

The mean percentage of PRIAS non-compliance had increased non-significantly from 45 per cent in 2009 to 55 per cent in 2010 and 50 per cent in 2011, but a downward trend was evident in 2012 (40 per cent) and 2013 (34 per cent); this achieved statistical significance in 2013 (P = 0.024).

The study also found that men diagnosed with high risk or locally advanced prostate cancer received treatment at a quicker rate across the duration of the study.

“A total of 88 per cent of men in these risk groups received immediate active treatment in 2009, rising to 89 per cent in 2010, 91 per cent in 2011 and 2012, and 93 percent in 2013,” said Associate Professor Evans.

The third quality indicator related to the percentage of positive surgical margins (PSM) following radical prostatectomy in men with organ-confined (pT2) disease. A PSM has been associated with an increased likelihood that men will require additional radiotherapy.  The percentage of PSM in 2009 was 24 per cent, rising slightly (by 3.4 percentage points) in 2010. A significant decline was first measured in 2011 (7 percentage point reduction in pT2 prostatectomy PSM; P = 0.031), with further significant improvements measured in 2012 and 2013, when the PSM remained steady at 12 per cent (p=0.036).

Monash University

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Herbs that can boost your mood and memory

The herbs peppermint, chamomile, rosemary and lavender have been proven to have an impact on mood and memory, with significant benefits displayed for older people, according to new research from Northumbria University.

Researchers from the University’s Department of Psychology have found that drinking peppermint tea improves alertness, while chamomile tea has a calming effect. They also found that smelling the aromas of rosemary and lavender impacted on memory in people over 65, with the scent of rosemary enhancing their memory, while lavender impaired it.

The findings have been presented at the annual British Psychological Society Conference in Nottingham this week (26-28 April 2016).

In one study, the researchers asked 180 volunteers to consume either a chamomile or peppermint tea drink and tested their cognition and mood before and after drinking. A control group drank hot water for comparison.

They found that peppermint enhanced and aroused both mood and cognition, helping to improve long term memory, working memory and alertness, while chamomile had a calming and sedative effect which significantly slowed memory and attention speed.

In a separate study, 150 healthy people aged 65 and over were placed in rooms which had been scented with rosemary and lavender essential oils, or a control room which had no scent. They were asked to undertake tests that assessed their prospective memory – the ability to remember to do something at a given time, such as taking medication, or after receiving a prompt, such as posting a letter after seeing a post box. They also completed a mood assessment test.

Those who had been in the rosemary scented room displayed significantly enhanced prospective memory, with test scores 15% higher than those who had been in the room with no aroma. They were also more alert.

In contrast, those who had spent time in the lavender scented room displayed significantly increased calmness and contentedness, with a decrease in their ability to remember to do something at a given time.

Dr Mark Moss, Head of the Department of Psychology, said: “Peppermint has a reputation for being psychologically or mentally alerting. It picks you up and makes you feel a little bit brighter, so we endeavoured to test this out by giving people peppermint tea, or chamomile tea, which is a more calming drink and then put them through some computerised tests. We found that those people who had drunk the peppermint tea had better long-term memory. They were able to remember more words and pictures that they had seen. In contrast, the people who had the chamomile were slower in responding to tasks.

“Rosemary meanwhile has a reputation about being associated with memory – even Shakespeare said ‘rosemary is for remembrance’ – and it’s also associated with being invigorating. We have found that people are more alert after being in a room that has rosemary aroma in it. We tested prospective memory – our ability to remember to remember to do something – on people over 65 years of age, to see if we could improve their ability and we found that rosemary could do that. This is potentially very important because prospective memory, for example, enables you to remember to take your medication at certain times of the day.

“It is interesting to see the contrasting effects that different herbs can have on both mood and memory, and our research suggests that that they could have beneficial effects, particularly in older age groups. If you were otherwise healthy then this research suggests that there is an opportunity to have an improved memory.”

Northumbria University’s Department of Psychology has undertaken a number of studies into the effects of herbs and substances on mood and memory. They have also found that sage, ginseng, lemon balm and gingko biloba can all have positive effects on improving mental performance.

Northumbria is ranked in the top 20 in the UK for its research in psychology, which was judged to have outstanding reach and significance for its impact, according to the 2014 Research Excellence Framework, which measures the quality of research undertaken at UK universities.

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Herbs that can boost your mood and memory