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The cover story of the month featured with an article entitled: Lifestyle factors affecting on reproductive function in male and female– A Complete Review the study submitted by Dynamic Fertility and IVF Centre. The story includes a worldwide issue affecting 15-18% of couples globally, amounting more than 45 million couples. In the era of increasing awareness, many things are changing and already changed.
Featured article
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Added to this, the current edition has a special featured article entitled: Heat stroke cases surge with soaring temperatures Contributed by Dr. Sunil Havannavar, Consultant - Internal Medicine, Columbia Asia Hospital – Sarjapur Road. The article features as: Heat illnesses occur due to the body's inability to cope with heat. Heat stroke results from prolonged exposure to high temperatures usually in combination with dehydration which leads to failure of the body's temperature control system.
Product Launches
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The edition also covers recent Healthcare news articles and product launches collected from worldwide sources to update the readers with the current trends in the industry
Machine-learning system used to diagnose genetic diseases
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San Diego-Researchers at Rady Children's Institute for Genomic Medicine (RCIGM) have utilized a machine-learning process and clinical natural language processing (CNLP) to diagnose rare genetic diseases in record time.
Sera Care to Develop NGS Standards for Tumor Mutational Burden Monitoring
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Sera Care Life Sciences, Milford, Mass, a provider of quality control materials for the infectious disease testing and nextgeneration sequencing (NGS) markets.
Sapio Sciences Launches Expanded Laboratory Informatics Platform
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Sapio Sciences, Baltimore, has announced availability of the company’s Exemplar 11 laboratory information management system (LIMS) and electronic laboratory notebook (ELN), a major expansion of the company’s laboratory informatics platform capabilities
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Cover Story
Lifestyle factors affecting on reproductive function in male and female – A Complete Review
nfertility is a worldwide issue affecting 1518% of couples globally, amounting more than 45 million couples. In the era of increasing awareness, many things are changing and already changed.
Lifestyle factors always have a major impact on reproductive performance; sometimes it is not conducive for fertility. Lifestyle practices increase the risk of infertility in both male as well as female; some of the lifestyle factors that cause trouble in pregnancy are – smoking, alcohol, environmental cause, improper diet, work culture etc.
Fertility is the ability to produce offspring and clinical infertility is defined as the inability to get pregnant after 12 months of unprotected intercourse. Infertility is a significant public health problem with high medical and social costs. Causes of infertility are wide, including female’s ovulation disorders, damage in fallopian tube, uterus issue, chromosomal abnormalities, endometriosis, male sperm disorder such as low sperm count, less motility of sperm and unexplained infertility.
Post-industrial western societies have dramatically changed the lifestyle of almost all the individuals and this is in turn affected or affecting reproductive health condition as well, for example- delayed pregnancy, lack of physical activities like yoga, exercise, intake of excess alcohol, smoking etc. let’s read these factors into details.
Introduction
I
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Cover Story Lifestyle factors affecting female’s fertility Delayed marriages One of the most common issues in females of being infertile is her age, as the age of the women increases, her fertility potential becomes decline, turning her less fertile. Delayed marriages refer directly to the age factor. If the woman plans for her marriage after thirties, then no doubt, her fertility reduces. Any woman, who is above 30 or in her thirties age, may struggle for pregnancy. Priorities have got changed and so the marriages are. At an earlier age, the number and the quality of eggs are healthy enough and fit to fertilize with the sperm. Carrier priorities, future responsibilities- these are some of the major factors, why marriages are getting late. A recent observation came by a study (noticing 100 pregnant women, how long it took them to get conceived; those women, who are at her 30, conceived within 3-4 month in 70-75% of all cases, women aged 36, conceived within 3-4 month in 4042% of the case. A study of 2100 pregnant women (from UK) reported that, factors like BMI, smoking, intake of alcohol and other lifestyle factors affects the conceiving duration.
Smoking Cigarette is detrimental to the female’s health. Studies have shown that smoking not only cause trouble in getting pregnant but also it leads to lowered fertility potential in the future too. Heavy smokers at last take help from fertility clinics to undergo with their ART procedure (such as IVF, ICSI for men etc.). Smoking direct affects the chances of pregnancy even with ART technique as well, with a result, a case study suggested that smokers have to undergo with their IVF at least twice or thrice times to attain success. Researchers have found that smokers, who have undergone their IVF cycle for the first time, 30-40% of these couples need to undergo their IVF again; on the other hand, couples, who are non-smokers, have more chances to their IVF accomplished at even first
time (depending upon the cause of infertility). A diligent study of 251 couples from 7 infertility clinics found that if a female ever smoked in her lifetime, her likelihood of not becoming pregnant from IVF treatment becomes more than doubled RR 1⁄4 2.71 (95%CI 1.37 – 5.35, P , 0.01). This danger increased with each year of smoking. Since we know that women are born with all the eggs they will ever have in their lifetime and once these eggs get damaged, there is no way to go back. Toxins inhaled from cigarette or smoke majorly affects fertility. The toxin when goes inside the body it damages to the reproductive organs such as ovarian follicles (where egg of the female grows into maturity), this in return causes premature aging of the ovaries and decrease in the count of eggs- these factors may lead to early menopause in women. On the basis of recent research, those women who smoke one to ten cigarettes per day have a very hard time throughout their way to pregnancy; they face with miscarriage, poor embryo quality, low birth weight, premature birth or declined egg quality. So, to reduce all these risks, it is better to stay away from smoking.
Role of Alcohol Approximately, 45-48% of adult women reported in taking the alcohol in the last 30 days, 12%-15% of women reported for the consumption of binge drinking 2-3 times a month. According to the National survey, it has been stated about one in two women of her child bearing age, i.e. the age of 18-35, drinks alcohol and 15-18% of adult women, who consume alcohol in this age group binge drink (binge drink is simply defined as the alcohol consumption, which brings the BAC (Blood Alcohol Concentration) level to 0.08% or more). Women, who consume alcohol during the pregnancy or even before the pregnancy, their risk of having a baby are with FASD – Fetal Alcohol Spectrum Disorder- that causes mental retardation or other issue at baby’s birth time.
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Cover Story Women who really want to reduce the chances of risk in her pregnancy, the best option is not to drink alcohol at all during her pregnancy. However, if the woman is planning to get conceived (say after few months) and still she is in her daily alcohol habit then she may have the risks of low birth weight, poor embryo quality or even preterm birth. Alcohol makes women less fertile.
infertility cause. Usage of contraception also affects fertility condition.
Stress & Depression – a major role in female fertility
The above evidences related with smoking, age factor, alcohol, shows that there is strong link between the lifestyle factors and causes risk on female fertility. It has been seen that fertility rate increases 10 fold with 10% decreased in body weight.
It has been researched, women, who had high level of alpha-amylase in saliva (alpha-amylase is an enzyme that marks stress), took 30% delay to get pregnant compared to those women, who had less alpha-amylase. A systemic increase in the pro inflammatory cytokines is noticed during excess stress that in turn exerts influence on the progression of depression. A negative association was also remarked between embryo implantation rate and female negative life events. High rates of perceived anxiety as well as anxiety if combines with depression are more common in females than in male partners. Reduced stress and depression is good for female’s fertility. There are some of best techniques to make the women in comfort zone during pregnancy such as acupuncture, music, meditation etc.
Diet To have a healthy diet, it is necessary to maintain appropriate composition and caloric intake in the food. Diet maintains the entire weight of the body and if the diet contains nutrition and healthy composition of exact calories, then during the pregnancy, the female won’t suffer any kind of hurdle and the baby too, will be healthy. Reproductive health is directly linked with the consumption of a healthy diet. Increased interval between second child leads to secondary infertility in females. Environmental factor also influences female
By adopting few positive aspects in our live, anyone can boost their fertility and improve reproductive health condition.
Conclusive evidence
Lifestyle factors affecting male’s fertility Smoking hurt male fertility Question comes here, does smoking hurt sperms? YES! It does, smoking is injurious for health and can create obstacle to attain fatherhood. Studies have found that smoking is directly associated with sperms motility, decreased sperm count, abnormal shape of sperms (or morphologically damaged). Those men who smokes frequently, have far less count of sperms compared to non-smoker men.
Intake of Alcohol Work culture or Occupational exposures play an important role in each individual life and Trend is another factor that is ruining lifestyles of many. Being a trendy or updated person, some indulges in these things allot, like excessive alcohol, smoking, drugs etc. It is very good to be in trend but accepting or adapting this culture is disappointing. If a man consumes alcohol heavily, no matter what else he does, he is reducing the chances of conceiving or impregnating his partner. Heavy drinking can reduce men’s sex drive, majorly affect semen quality and cause infertility.
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Cover Story Other Aspects Environmental factors are also directly linked with reduced sperm count, sperms motility, viability and detectable levels of cadmium and lead in seminal plasma. The increased number of reports suggests that physical and chemical agents, present in the environment affects male fertility in humans. Industrial chemicals, heavy metals, pollution- these three factors have a negative impact on male fertility. Exposure to these environmental agents direct hits male fertility.
Conclusion It is clearly identified that lifestyle factors have great impact on fertility, whether it is male or female. In addition, the risk factors get increased, especially when any of the partners is
a smoker or have the habit of smoking. There are several methods to modify the lifestyle such asadopting a healthy habit, consulting with good expert/ specialist, meditation, acupuncture, yoga , taking interest in the hobby like singing, dancing, reading the novels etc. Couples, who are seeking for their fertility medication, best way to get rid of infertility is to settle their mind on ART treatment and those, who are already undergoing or outlining a plan to go with ART treatment, can also boost their chances to conceive by cutting back alcohol from their daily routine, not to smoke, stick on healthy diet etc.
For more Information: Dynamic Fertility and IVF Centre F - 21, South Extension Part 1, New Delhi - 110049, India +91 11 41315994 / +91 11 24645994 Email ID: pankaj@dynamicfertility.com
Research News
Beyond Annoying: How to Identify the Sounds of a Troublesome Snore An estimated 40% of adults in the U.S. snore. And, men, you tend to out-snore women. (Yes, this may explain why you get kicked or shoved at night!) And despite the myth that snoring is a sign of deep sleep, there's really no upside to it. "Snoring really does not demonstrate anything good,” says Erich Voigt, an ear, nose, and throat doctor and sleep specialist at New York University Langone Health. "You can have beautifully deep sleep in a silent sleep." Snoring is never great news, but often it's harmless (other than the pain your sleeping partner may feel). In some cases, though, it's a sign of something serious. When we sleep, if the air that moves through our nose and mouth has a clear passage, we can sleep silently. But when the airways are narrowed, we snore. "Snoring is basically a vibration of the tissues inside of the airway," Voigt explains — that is, the roof of the mouth and the vertical folds of tissue that surround the tonsils. A lot of factors can contribute to snoring, says Voigt. We can control some of the underlying triggers. For instance, drinking alcohol is linked to snoring. Alcohol tends to make the tissues within our mouths swell a bit, and alcohol can also change the quality of sleep. "Your brain is sedated from alcohol, so the combination can make you snore worse," Voigt says. Being overweight can also increase the likelihood of snoring. So, when people lose weight, this can reduce the amount they snore. Other factors that contribute to snoring may be outside our control. There are physical obstructions, such as a large uvula or a deviated septum. In addition, allergies and upper respiratory infections can cause the tissues in the roof of the mouth to become floppy, swollen, or stretched out, Voigt says. When is snoring just annoying and when is it a sign of a potentially serious problem? A light,
rhythmic snore — that stays pretty steady — is common and tends to be harmless. "It might be bad for the bed partner, but it's not a big health problem," Voigt says. But when snoring becomes loud and erratic, this can signal a problem. So, if you're concerned about the person you sleep with, what should you listen for? "A crescendo where the snoring is getting louder and louder," Voigt explains, is the first sign. The crescendo is typically followed by periods of no sound, and then a gasp that can sound like a snort. This pattern of snoring can be a sign of obstructive sleep apnea, which is a serious condition that can increase the risk of heart disease. What happens to people with this condition is that the airway will collapse in on itself and close. "And as the person is trying to breathe in, the air will not pass. That's what the apnea is," Voigt explains. You can watch and listen to this YouTube video for a good demonstration of the sounds made by someone with sleep apnea. "During the first minute he has regular rhythmic snoring," Voigt says. "Then, in the second minute he has a pause, (apnea) or no breathing, followed by a big gasp for air." Often, people with sleep apnea don't wake to consciousness, so they don't know they have a problem. If you sleep with someone who snores, you're in a good position to help flag the issue. Then, it's best to get it checked out by a doctor who can diagnose the problem. Story source /Credit: Allison Aubrey
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Market Research
Cipla Medpro acquires a stake in connected health company Brandmed
Cape Town, 16 April 2019: – In recognition of the importance of the critical shift to a more patient-centric, integrated and predictive healthcare environment, Cipla Medpro South Africa (Pty) Limited (“Cipla Medpro”), whollyowned subsidiary of Cipla Limited (BSE: 500087; NSE: CIPLA EQ; hereafter referred to as "Cipla") and South Africa’s third largest pharmaceutical company in the private sector, will acquire a 30% stake upon closure in the connected healthcare company, Brandmed (Pty) Limited. In February, Cipla had announced a similar partnership in India with Wellthy Therapeutics to offer a clinicallyvalidated digital disease management platform to patients in cardio-metabolic health. Following the Definitive Agreement, Cip Tec will make an upfront payment of $22 million to Pulmatrix in exchange for assignment of all rights for Pulmazole in relation to pulmonary indications to Cip Tec. Thereafter, both parties will equally share costs related to the future development and commercialization of Pulmazole, and equally share worldwide free cash flow from future sales of Pulmazole. Pulmatrix will remain primarily responsible for the execution of the clinical development of Pulmazole, and Cip Tec will be responsible for the commercialization of the
product. The partnership will be overseen by a Joint Steering Committee with equal representation from both companies. Brandmed, founded in 2014, has developed a unique fully integrated end to end solution to address outcomes and value-based care for patients with chronic lifestyle and NonCommunicable- Diseases (NCDs) such as hypertension, diabetes, high cholesterol, asthma and chronic obstructive pulmonary disease. Kardio Group, a subsidiary of Brandmed was awarded the prestigious Frost & Sullivan South African Product Line Strategy Leadership, Internet of Medical Things South Africa, award in 2019¹. The Brandmed ecosystem, developed in South Africa, seamlessly integrates a combination of connected solutions across the health continuum for patients, healthcare professionals, practices and institutions, and aims to deliver personalised patient care. Paul Miller, CEO of Cipla Medpro, said: “This transaction will help to transition healthcare from being reactive to a proactive and real-time monitoring model that focuses on promoting
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Market Research wellness instead of managing illness. This aligns with Cipla’s vision and focus on ‘human care’ and a future where good health is expected, not for the few, but for the many.” “By pairing our strengths with Brandmed’ s innovative, patient centric approach to healthcare, Cipla Medpro will enhance its diverse portfolio in the NCD area to provide holistic care to patients from awareness through to disease management, thereby enabling patient adherence and compliance.” The brainchild behind Brandmed, cardiologist Dr Riaz Motara, said: “Drugs alone are not enough to manage a disease and the disease burden will become unmanageable unless innovative solutions are implemented.” “We’re integrating medical expertise with groundbreaking technology to deliver better patient care and offer an integrated disease management solution. We’re also shifting the focus from managing diseases in separate silos to a comprehensive risk reduction and treatment approach. Greater success in patient health outcomes, value-based care and efficiencies could be achieved in South Africa if more healthcare stakeholders are willing to work together,” said Motara.
The Indigo Wellness Index report reveals that South Africa has tremendous scope for improvement on various health indicators. Measures captured included healthy life expectancy, blood pressure, blood glucose (diabetes risk), obesity, depression, happiness, alcohol use, tobacco use, inactivity (too little exercise), and government spending on healthcare2. According to the World Health Organisation, NCDs – mainly cardiovascular diseases, cancers, chronic respiratory diseases, and diabetes – are the leading cause of death worldwide. More than 38 million people die annually from NCDs (63% of global deaths), including 16 million people who die before the age of 70. Nearly 50% of global disability is attributed to NCDs. Reducing the avoidable burden caused by NCDs and their risk factors means taking actions now to change the narrative around NCDs3.
References: https://ww2.frost.com/about/best-practicesrecognition http://global-perspectives.org.uk/volumeone/infographics/ https://www.who.int/beat-ncds/en/
Market Research
AI based healthtech startup NIRAMAI raises $6 mn in Series A funding Bengaluru, February 25, 2019: Artificial intelligence based healthtech startup NIRAMAI Health Analytix, has announced that it has closed $6 mn in a Series A round of funding led by Dream Incubator, a Japanese VC firm, with participation from BEENEXT and other investors. Earlier investors pi Ventures, Ankur Capital, Axilor Venture s, and Binny Bansal also participa ted in the round. The funds will be used for scaling in India, hiring top talent and getting additional regulatory approvals for international expansion. NIRAMAI is creating a revolution in breast health screening with its patented technology called Thermalytix™ which is a non-contact, noninvasive and radiation-free solution for early stage breast cancer detection. The solution is clinically proven to be accurate for women of all age groups. This affordable and portable solution is completely privacy conscious. Thermalytix can be applied to other areas of diagnostics as well. This innovation has led to NIRAMAI being selected as the only Indian company listed on 2019 cohort of AI 100 startups in the world by global business data intelligence platform CB Insights. Dr. Geetha Manjunath, CEO & CTO of NIRAMAI, says, “NIRAMAI helps to bridge the gap in our healthcare delivery systems by providing an AI tool that is accurate, affordable and accessible to all. If institutionalized as regular
screening method, NIRAMAI Thermalytix has the potential to save many lives not just from breast cancer deaths but eventually other diseases as well. We are thankful to the continued support and mentorship provided by our seed investors and are excited to join hands with our new investors to
propel us to next level of growth.” Eto Munehiko, Managing Director, Dream Incubator Advisory and Investment India, who will join Niramai board, says, “We are excited about partnering with Niramai that is building a truly deep-tech solution out of India. We also believe in the potential of their technology to solve global health problems at scale. The disruptive AI based technology is key to early detection of disease and saving lives especially where there is a shortage of skilled medical professionals and dense breast ratio is high. Dream Incubator would support Niramai’s international expansion including Japan.” Dream Incubator has invested in more than 160 companies across 8 countries and supported 28 IPOs.
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Market Research Manish Singhal, Founding Partner, pi Ventures added, “We believe that Niramai’s team and technology will create a significant difference in early detection of breast cancer and are happy to continue backing them in their journey. AI diagnostic tools are helping doctors scour through data to better diagnose a variety of abnormal conditions and is the only way to bridge the huge demand and supply gap when it comes to quality healthcare.” NIRAMAI has made excellent progress in 2018 showing clinical validation with multiple trials published in international forums, market validation with 20+ installations in hospitals and diagnostic centres across 9 cities in India and receiving excellent user feedback from women. NIRAMAI was founded in July 2016 by serial intrapreneur Dr. Geetha Manjunath who comes with 25 years of expertise in research and innovation leadership, and Nidhi Mathur with rich experience in business planning, strategy and product management. Both women co-founders have previously worked with companies like Xerox Research and Hewlett Packard Labs. Niramai has previously raised a seed round of $1mn in April 2017. Left: Nidhi Mathur and Right Dr. Geetha Manjunath NIRAMAI celebrates International Women’s Day with slew of initiatives during March Bengaluru, March 07, 2019: Niramai has announced multiple initiatives for women during the entire month of March that includes 50% discount on all breast cancer screening tests at its centres. Niramai will also conduct corporate camps, discounts on breast cancer screenings as well as community outreach events to sensitise women and create awareness regarding early detection and prevention of breast cancer. Niramai has partnered with 21 hospitals and diagnostic centres to deploy its solution. Breast
cancer screenings costing Rs. 1500 will be available at a special discount of 50% throughout March. This offer is ongoing at new and existing centres in 9 cities, including Bengaluru, Mysore, Hyderabad, Chennai, Mumbai, Pune, Delhi, Dehradun and Bhubaneshwar. To book an appointment log on to www.niramai.com. “As part of Niramai’s community screening initiative, we partner with organisations that have extensive outreach and focus on women’s health, to jointly conduct health programs at grassroot level using Niramai solution for breast health screening. Bringing the service to the doorstep of women is an important feature of preventive screening that our partners help us achieve,” said Nidhi Mathur, COO & Co-founder, Niramai. Specific programs are being launched for women at their workplaces. Vidya initiative is being targeted towards women in education field through women health volunteers. Corporate camps are being conducted at leading womencentric corporate clients like MakeMyTrip, Sapient, SAP Labs, NetApp, West, etc. A new initiative is being launched to reach vulnerable women in Karnataka together with Swasti Health Catalyst, a reputed health-focused NGO. Niramai solution is particularly suitable for community screening due to its portable, affordable and completely private experience to the user. Niramai, a healthtech start-up based out of Bengaluru, has developed a novel solution for detecting breast cancer at an early stage. The solution called Thermalytix is non-contact, noninvasive, radiation-free and is clinically proven to be more accurate than mammography. This affordable and portable solution is creating a breakthrough in preventive screening for breast cancer. The test can be conducted either in diagnostic centres or at workplace or apartments. Furthermore, the test is completely privacy conscious where no one touches or even sees the woman during the test, addressing the sociocultural issues of breast screening.
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Featured article
Heat stroke cases surge with soaring temperatures Contributed by Dr. Sunil Havannavar, Consultant - Internal Medicine, Columbia Asia Hospital – Sarjapur Road Heat illnesses occur due to the body's inability to cope with heat. Heat stroke results from prolonged exposure to high temperatures usually in combination with dehydration which leads to failure of the body's temperature control system. With the influence of global warming, it is predicted that the incidence of heat stroke cases and fatalities will also become more prevalent. The medical definition of heat stroke is a core body temperature greater than 104 degrees Fahrenheit, with complications involving the central nervous system that occur after exposure to high temperatures. Heat stroke and deaths from excessive heat exposure are more common during summers with prolonged heat waves. Despite wide variations in ambient temperatures, humans can maintain a constant body temperature by balancing heat gain with heat loss. When heat gain overwhelms the body's mechanisms of heat loss, the body temperature rises, potentially leading to heat stroke. Excessive heat denatures proteins, destabilizes phospholipids and lipoproteins, and liquefies membrane lipids, leading to cardiovascular collapse, multiorgan failure, and, ultimately, death. The most common symptoms include nausea, muscle cramps seizures, confusion, disorientation, and sometimes loss of consciousness or coma. Morbidity and mortality from heat stroke are related to the duration of the temperature elevation. When therapy is delayed, the mortality rate may be as high as 80%; however, with early diagnosis and immediate cooling, the mortality rate can be reduced to 10%. Mortality is highest
among the elderly population, patients with preexisting disease. Two forms of heat stroke exist. Exertional heat stroke (EHS) generally occurs in young individuals who engage in strenuous physical activity for a prolonged period in a hot environment. Classic non exertional heat stroke (NEHS) more commonly affects sedentary elderly individuals, persons who are chronically ill, and very young persons. Heat stroke is a medical emergency and continues to be one of the leading causes of preventable deaths. Rapid reduction of the core body temperature is the cornerstone of treatment because the duration of hyperthermia is the primary determinant of outcome. Behavioural responses are important in the management of temperature elevations and may provide clues to preventing the development of heat stroke. Education is the single most important tool for the prevention of heat stroke. The media, public education, public health programs, and athlete safety programs can play a pivotal role in increasing the public's awareness of the dangers of heat during heat waves. Similarly, drinking fluids on schedule (and not based only on thirst), frequent cooling breaks may drastically reduce the incidence of heat stroke. Recognition of host risk factors and modification of behaviour (eg, limiting alcohol and drug intake and the use of medications and drugs that interfere with heat dissipation) and physical activity also will prevent heat stroke.
Research News
Machine-learning system used to diagnose genetic diseases San Diego-Researchers at Rady Children's Institute for Genomic Medicine (RCIGM) have utilized a machine-learning process and clinical natural language processing (CNLP) to diagnose rare genetic diseases in record time. This new method is speeding answers to physicians caring for infants in intensive care and opening the door to increased use of genome sequencing as a first-line diagnostic test for babies with cryptic conditions. "Some people call this artificial intelligence, we call it augmented intelligence," said Stephen Kingsmore, MD, DSc, President and CEO of RCIGM. "Patient care will always begin and end with the doctor. By harnessing the power of technology, we can quickly and accurately determine the root cause of genetic diseases. We rapidly provide this critical information to intensive care physicians so they can focus on personalizing care for babies who are struggling to survive." A new study documenting the process was published today in the journal Science Translational Medicine. The workflow and research were led by the RCIGM team in collaboration with leading technology and data-science developers -Alexion, Clinithink, Diploid, Fabric Genomics and Illumina. Dr. Kingsmore's team has pioneered a rapid Whole Genome Sequencing process to deliver genetic test results to neonatal and pediatric intensive care (NICU/PICU) physicians to guide medical intervention. RCIGM is the research arm of Rady Children's Hospital-San Diego. By reducing the need for labor-intensive manual analysis of genomic data, the supervised automated pipeline provided significant time-
savings. In February 2018, the same team achieved the Guinness World Record™ for fastest diagnosis through whole genome sequencing. Of the automated runs, the fastest times -- averaging 19 hours -- were achieved using augmented intelligence. "This is truly pioneering work by the RCIGM team -- saving the lives of very sick newborn babies by using AI to rapidly and accurately analyze their whole genome sequence " says Eric Topol, MD, Professor of Molecular Medicine at Scripps Research and author of the new book Deep Medicine. RCIGM has optimized and integrated several time-saving technologies into a rapid Whole Genome Sequencing (rWGS) process to screen a child's entire genetic makeup for thousands of genetic anomalies from a blood sample.
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Research News Key components in the rWGS pipeline come from Illumina, the global leader in DNA sequencing, including Nextera DNA Flex library preparation, whole genome sequencing via the NovaSeq 6000 and the S1 flow cell format. Speed and accuracy are enhanced by Illumina's DRAGEN (Dynamic Read Analysis for GENomics) Bio-IT Platform.
percent precision in 95 children with 97 genetic diseases).
Other pipeline elements include Clinithink's clinical natural language processing platform CliX ENRICH that quickly combs through a patient's electronic medical record to automatically extract crucial phenotype information.
"Using machine-learning platforms doesn't replace human experts. Instead it augments their capabilities," said Michelle Clark, PhD, statistical scientist at RCIGM and the first author of the study. "By informing timely targeted treatments, rapid genome sequencing can improve the outcomes of seriously ill children with genetic diseases."
Another core element of the machine learning system is MOON by Diploid. The platform automates genome interpretation using AI to automatically filter and rank likely pathogenic variants. Deep phenotype integration, based on natural language processing of the medical literature, is one of the key features driving this automated interpretation. MOON takes five minutes to suggest the causal mutation out of the 4.5 million variants in a whole genome. In addition, Alexion's rare disease and data science expertise enabled the translation of clinical information into a computable format for guided variant interpretation. As part of this study, the genetic sequencing data was fed into automated computational platforms under the supervision of researchers. For comparison and verification, clinical medical geneticists on the team used Fabric Genomics' AIbased algorithms -- VAAST and Phevor integrated into the clinical decision support software, OPAL (now called Fabric Enterprise) -- to confirm the output of the automated pipeline. Fabric software is part of RCIGM's standard analysis and interpretation workflow. The study titled "Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation," found that automated, retrospective diagnoses concurred with expert manual interpretation (97 percent recall, 99
Researchers concluded that genome sequencing with automated phenotyping and interpretation -in a median 20:10 hours -- may spur use in intensive care units, thereby enabling timely and precise medical care.
An estimated four percent of newborns in North America are affected by genetic diseases, which are the leading cause of death in infants. Rare genetic diseases also account for approximately 15 percent of admissions to children's hospitals. The RCIGM workflow is engineered to speed and scale up genomic data interpretation to reduce the time and cost of whole genome sequencing. The team's goal is to make rWGS accessible and available to any child who needs it. Increased automation of the process removes a barrier to scaling up clinical use of WGS by reducing the need for time-consuming manual analysis and interpretation of the data by scarce certified clinical medical geneticists. There were fewer than 1,600 of these experts nationwide in 2017, according to the American Board of Medical Genetics and Genomics.Rady Children's Institute began performing genomic sequencing in July 2016. As of the end of March 2019, the team had completed testing and interpretation of the genomes of more than 750 children. One-third of those children have received a genetic diagnosis with 25 percent of those benefitting from an immediate change in clinical care based on their diagnosis.
Story Source Materials provided by Rady Children's Institute for Genomic Medicine. Note: Content may be edited for style and length.
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Product Launches
Sera Care to Develop NGS Standards for Tumor Mutational Burden Monitoring SeraCare Life Sciences, Milford, Mass, a provider of quality control materials for the infectious disease testing and next-generation sequencing (NGS) markets, has been selected as a technology partner in support of the first-ever external quality assessment program for tumor mutational burden monitoring, which is being developed by the International Quality Network for Pathology (IQN Path). Under its agreement with IQN Path, SeraCare will develop, manufacture, and supply a range of highly characterized cell line genomic DNA and formalin-fixed, paraffin-embedded standards with confirmed low, mid, and high levels of mutational burden within their exome regions. Beginning in
June 2019, the materials will be sent to about 30 labs as part of IQN Path’s external quality assessment program for clinical labs that are monitoring tumor mutational burden in conjunction with their NGS assays for cancer tumor profiling.
Trevor W. Brown, SeraCare. Studies to understand the clinical utility of tumor mutational burden as an NGS biomarker have been hampered by the lack of available standards and cost-effective assays. Harmonization of tumor mutational burden standards is important for current clinical research, as a number of
biopharmaceutical companies require such standards in order to advance their programs in clinical immunooncology. Such research is seeking to use NGS panels to accurately and consistently assess tumor mutational burden scores, in order to guide the use of immunooncology therapeutics. “SeraCare is pleased to be selected by IQN Path to support their goals of developing a first-of-itskind global tumor mutational burden proficiency program,” says Trevor W. Brown, vice president for clinical genomics at SeraCare. “Our rapid and highly customizable genomic standards technologies allow us to quickly respond to the unique needs of a partner like IQN Path, while still leveraging the strong quality-focused manufacturing capabilities for which Sera Care has been historically known.”
Nicola Normanno, MD, IQN Path. IQN Path is an international group whose mission is to facilitate the clinical implementation of tissue-based biomarkers through multistakeholder cooperation. It has a membership consisting of academic and corporate stakeholders from the pharmaceutical and in vitro diagnostics sectors. “As more and more high-content NGS panels capable of providing a tumor mutational burden score are brought to the market, the need for a common reference standard and proficiency programs to support clinical adopters becomes very important,” says Nicola Normanno, MD, president of IQN Path. “We are excited to be leading the effort to assess interlaboratory performance on this important biomarker that will ultimately help clinicians make more-informed treatment decisions with this new class of immunooncology therapeutics.” Story source / Credit : SeraCare Life Sciences
Sapio Sciences Launches Expanded Laboratory Informatics Platform Sapio Sciences, Baltimore, has announced availability of the company’s Exemplar 11
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Product Launches laboratory information management system (LIMS) and electronic laboratory notebook (ELN), a major expansion of the company’s laboratory informatics platform capabilities. Exemplar 11 improves the user experience via interface enhancements, including new data navigation aids, expanded searching capabilities, and easier data-viewing setup. The system’s new data- and activity-viewing components enable quick and easy finding, viewing, and traversing of laboratory and scientific data. The
Exemplar 11 platform also incorporates a robust report builder module. The report builder enables drag-and-drop creation of templates that include standard reporting elements such as headers, footers, margins, static images, and static text. Reports can also include images, tables, or forms built with data sourced from system records. “Exemplar 11 continues our intense commitment to improving our informatics platform usability, data visualizations, and capabilities,” says Kevin Cramer, CEO of Sapio Sciences. “We are excited that over the last year Exemplar LIMS and ELN were selected as the global solution for both research and clinical labs at large pharmaceutical organizations and premier lab services providers.” Exemplar 11 offers the only fully capable LIMS and ELN systems combined into a single solution built on the same platform. The combination removes the need for data integration, as data about samples, consumables, and test results are automatically shared across the system. The system permits pharmaceutical and biotech researchers to have a single, ready-to-go, solution that address their lab and science informatics needs, and serves as a knowledge base for all scientific research and lab work across the organization. “We continue to listen and learn from our customers in these important domains regarding how we can improve our platform to address their needs,” says Cramer. “As we have in the past, based on their input and feedback, Sapio Sciences
will continue to swiftly advance our capabilities to support our customers.” Story source and Credit: Sapio Sciences.
Creative Diagnostics Introduces New NanoChains for Scientific Researchers With years of experience in the pharmaceutical and life science sector, Creative Diagnostics has released gold nanochains with a large specific surface area and high load capacity. These nanochains can be easily surface-modified, and are suitable for biological immunoassay, protein labeling, dark-field imaging optics, fluorescence enhancement, surface-enhanced Raman substrates and drug carriers, etc.
With excellent dispersion and stability, these new Nanochains have high negative surface charge, and can be customized according to the needs of customers. Featured with large specific surface area, high load capacity, and surface modifying functional group easily, the new gold nanochains are safe, environmentally, and pollution-free. Creative Diagnostics provides a comprehensive list of special shape particles in a wide range of different morphology and dimensionality, and these Nanochains are one of the featured products. "Creative Diagnostics has a talented and professional group of employees, who are dedicated and passionate about supporting the new scientific applications and accelerating the advancement of science. With the expertise of our team, we always try to provide useful and helpful tools for science community such as the new nanochains, and we'll continue to expand our offerings for our global customers." said Dr.
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Product Launches Jessica Waldorf, chief scientific officer of R&D department, at Creative Diagnostics. "Creative Diagnostics provides highly uniform nanoparticles widely used in biology and medicine. Particle sizes can be customized according to the needs of customers. With years of experience, Creative Diagnostics is glad to provide researchers biological resources like gold nanochains. We're uniquely qualified to support your research programs." said Alex, one of a senior scientific officers at Creative Diagnostics. "Nanochains are offered to biological researchers as a powerful tool to gather data faster and move science forward. Together with other nanoparticles products and services, we will continue to meet the needs of scientific researchers and focus on offering the market quality, affordable products and services in order to achieve integrative cost effective solutions." For more detailed information on NanoChains, please contact Creative Diagnostics directly at 1631-619-7922.
Top UK University is Successfully using Syngene Imaging System To Rapidly Study Proteins, DNA and Cells Associated with Breast Cancer Syngene, a world-leading manufacturer of image analysis solutions, has announced its G:BOX Chemi XX6 multi-application imager is being utilised by scientists at a major London university to speed up analysis of proteins, DNA and cells associated with breast and a range of other cancer types. Scientists at the university are using a G:BOX Chemi XX6 multi-application imager to rapidly detect changes in DNA and protein expressed in human breast and other cancer tissues utilising DNA gels and ECL-based chemiluminescent Western blots respectively. They are also using the system to record images of six-well plates containing cancer cells stained with crystal violet to estimate total viable cell counts. The data generated is providing information which scientists at the university are using to understand fundamental mechanisms of cancer cells and their microenvironment and could help to identify new
therapeutic targets and patient stratification methods. The Laboratory Manager at the university explained: “Originally, we were looking for two imaging systems because we need equipment that can image Westerns, DNA gels and even multiwell plates. We reviewed equipment from three suppliers and the feedback from all the researchers was that the Syngene G:BOX Chemi XX6 provided images of good quality in a broad range of applications and this meant we only had to have one system for everything.” He continued: “Now 30 of our researchers regularly use the G:BOX Chemi XX6 system to image around 10 Western blots daily. This system is simple to use and allows us to have a higher throughput of results compared to using X-ray film. At full capacity, we think we could generate 20 blot images every day and we even use the G:BOX Chemi XX6 for producing images of cells stained with crystal violet. In future, some of our researchers want to do fluorescent Western blotting and we have had the right lighting fitted so that our system will allow us to do this too.” “We’re delighted that this major UK University is using a Syngene imaging system to accelerate their cancer research,” comments Dr Martin Biggs, Sales Manager at Syngene. “The choice of a G:BOX Chemi XX6 for use by so many scientists for such a high throughput of Western blots shows how reliable this technology is for generating good quality imaging results with a range of diverse applications.” Story source: Syngene
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Product Launches
BD Launches New Automated Flow Cytometry Sample Preparation Instrument with CE-IVD Certification BD FACSDuet™ system raises the bar on flow cytometry automation offering a fully integrated sample-to-answer solution with the BD FACSLyric™ clinical flow cytometer BD (Becton, Dickinson and Company), a leading global medical technology company, has announced the CE-IVD certification for the BD FACSDuet™ automated flow cytometry system. The new fully automated sample preparation instrument enables clinical laboratories to improve their efficiency by reducing errors and limiting the manual user interactions required to run assays on the BD FACSLyric™ clinical flow cytometer.
The BD FACSDuet™ system builds new capabilities into the BD portfolio of clinical flow cytometry solutions. Collectively, these solutions may help clinical laboratories improve accuracy and repeatability of their assays by minimizing manual steps that can introduce errors. “The BD FACSDuet system enables us to increase our laboratory’s efficiency and throughput, replacing manual processes with automated ones that are traceable and that can be automatically transferred and recorded in our laboratory information system providing a complete audit trail,” said David Bloxham, principal biomedical scientist at the HematoOncology Diagnostic Service (HODS) at Cambridge University Hospital NHS Trust. Physical integration between the BD FACSDuet™ system and the BD FACSLyric™ clinical flow cytometer allows technicians to load
samples and reagents onto the BD FACSDuet™ system and receive data once the samples are fully processed from the BD FACSLyric™ clinical flow cytometer. Data integration using the BD FACSLink™ middleware solution, offers bidirectional communication between the instruments and connectivity with laboratory information systems (LIS). “The introduction of the BD FACSDuet system is the natural continuation of our 40 year history of making reliable flow cytometry solutions that are more robust and easier to use,” said John Ledek, worldwide president of Biosciences for BD. “Automation solutions for flow cytometry can go a long way towards improving accuracy and standardization from instrument to instrument providing the consistent results that clinicians depend on to inform patient care.” The BD FACSDuet™ automated flow cytometry system is available as an in vitro diagnostic (IVD) instrument in Europe and is targeted to be available in other geographies as soon as regulatory milestones are secured. The current platform automates the lyse-no-wash process. Existing systems can be field upgradable as laboratory needs evolve. Story source: Becton Dickinson and Company
Confocal.nl Present Workshops on Rescan Confocal Microscopy Technology innovators in super-resolution microscopy, Amsterdam-based Confocal.nl, are running workshops on Re-scan Confocal Microscopy with demonstrations to illustrate the use of use of the technique. Confocal.nl are running a series of workshops on their ground-breaking technology, Re-scan Confocal Microscope (RCM). With a camerabased detection scheme, RCM offers an easy-touse confocal system with high resolution and sensitivity in a cost-effective package tuned to the needs of the individual user. Summarising their program, Confocal.nl's CEO, Peter Drent, says “We will be demonstrating the RCM. Not only does it offer confocal Zsectioning allowing 3D reconstruction: it has increased sensitivity because of our scientific
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Product Launches CMOS based detector. We routinely achieve 170 nm optical resolution which is 40% better than regular confocal microscopes. During the practical session, we will show attendees the most important feature of the RCM: ease of use!�
The meetings allow participants to test the system with their own samples and to have plenty of time to ask questions. There are no special requirements for sample preparation, only that the sample may be excited with wavelengths of 405, 488, 561 or 638 nm. Registration is free to participants. To find out when there will be a workshop in your area, please visit Confocal.nl's web site. Confocal.nl is also happy to organise a workshop at other locations.On-line demonstrations may also be arranged. Story source: Confocal.nl
Optika Microscope Launches OPTIKA B-60 - New Line of Cordless Educational Microscopes An Italy based leading Microscopy manufacturing organization Optika which is world wide known for their top-quality microscopes has recently launched OPTIKA B-60 Series representing the most modern cordless microscope which are ideal for students. The Beasy to detail carefully let the the comfort
60 is slim and carry, its every has been thought out to user work with enhanced and intuitiveness
Compared to any other solution in the class. Available in several configurations to meet the most diversified needs, B-60 is powered by a bright LED to ensure clear observations over 20 years of use and totally independent from the mains thanks to the rechargeable batteries. The Stag Erase™ is something you've never seen before: the new, revolutionary stage of OPTIKA B-60 is coated with a special painting to reduce accidental scratches caused by the slides to the minimum and facilitate their removal. The ergonomic design includes an arm / wrist rest support to let students be relaxed and stay relaxed when using the microscope, reducing the fatigue during use and increasing the performance as a result.
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PUBLISHED ON 20th FEBRUARY 2019
RNI NUMBER: UPENG/2017/73675