Genetics

Genetic Test for Opioid Addiction Risk Should Be Withdrawn, Experts Tell FDA – Medpage Today

A group of 31 physicians and researchers called on the FDA to reverse its decision about AvertD, a test that uses DNA to identify whether adults may have an elevated risk of developing opioid use disorder (OUD).

In a letter to FDA Commissioner Robert Califf, MD, experts in genetics, addiction, psychiatry, public health, and device regulation asked the agency to revoke its recent approval of AvertD, based on research that doesn't support the methodology used by the test's sponsor.

The group also sent a letter to Centers for Medicare & Medicaid Services (CMS) Administrator Chiquita Brooks-LaSure asking CMS to deny coverage of AvertD.

The FDA approved AvertD in December 2023. The prescription-only genetic test from SOLVD Health is expected to be on the market soon.

AvertD detects the presence of 15 single nucleotide polymorphisms (SNPs) to help identify people who may have an increased risk of OUD. It's intended to be used in combination with clinical evaluations and patient assessments when oral prescription opioids are being considered to treat acute pain.

The major risks associated with AvertD are false-negative and false-positive results, the FDA said. Before the agency approved it, an FDA advisory committee voted strongly against an earlier version of AvertD, with false-negative and false-positive test results being a primary concern.

"The FDA seems to believe the test isn't a very good test but that it's better than nothing. They've got it wrong," said Andrew Kolodny, MD, an opioid policy expert at Brandeis University in Massachusetts, who signed the letters to the FDA and CMS.

"The problem isn't that the test has weak specificity and sensitivity," Kolodny told MedPage Today. "The problem is that it doesn't work at all. It's 100% bogus."

The AvertD test will harm people, Kolodny emphasized. "Patients who test negative, and their clinicians, will be left with a false sense of security, which can result in overuse of opioids and addiction," he said.

"Patients who test positive will be falsely branded as prone to a highly stigmatized condition," he continued. "And they may become fearful of taking opioids, even in situations where use is beneficial."

Genetic tests for opioid addiction have a checkered history. The FDA approval of AvertD last year was an industry first.

Like many genetic tests, confounding is part of the problem, Kolodny and colleagues said. An independent evaluation using methodology like the one used to test AvertD found that the algorithm gave the appearance of predicting genetic risk but was not a true measure of genetic risk, they noted.

"With proper controls for ancestry, genetic predictors from the 15 variants used in AvertD did not predict risk of OUD any better than chance," they said in their letters to the FDA and CMS.

SOLVD Health said it was aware of the letters to FDA and CMS and is reviewing them.

"We believe the FDA approval of AvertD represents a significant step forward in helping clinicians and patients have informed discussions about opioid-sparing techniques or alternative pain management options, if medically appropriate," the company said in an email to MedPage Today.

"Consistent with regulatory guidelines and standards, AvertD was clinically validated through a blinded, multicenter study evaluating participants at least 1 year after their initial exposure to prescription oral opioids," SOLVD noted. "In the hands of physicians, the test results can be a critical tool to help combat opioid use disorder."

The company also said it is conducting prospective post-market studies to further evaluate the test's performance in real-world settings.

Judy George covers neurology and neuroscience news for MedPage Today, writing about brain aging, Alzheimers, dementia, MS, rare diseases, epilepsy, autism, headache, stroke, Parkinsons, ALS, concussion, CTE, sleep, pain, and more. Follow

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Genetic Test for Opioid Addiction Risk Should Be Withdrawn, Experts Tell FDA - Medpage Today

Genetics

World Anthropology Day showcases multifaceted programs | Binghamton News – Binghamton University

Binghamton Universitys Anthropology Department hosted a World Anthropology Day celebration on Feb.15, with 12 archeology and biological anthropology labs in three science buildings showcasing the departments full range of academic offerings.

Featured labs focused on plants (paleoethnobotany), animals (zooarchaeology), remote sensing and historical analysis, skeletal analysis (osteology), forensic anthropology and human genetics, just to name a few. Professors shared their research topics and what opportunities await curious students in the wide world of anthropology.

At the Lab for Anthropometry and Biomarkers, students interested in biology could learn about organismal biology, exosystems and biomarkers in the field of biological anthropology. Associate Professor Katherine Wander led the presentation at her new lab in Science 2.

Examining these patterns of information can further research in identifying biological changes, assessing disease risk and contributing toward advancements in public health. In the fall, Wander will offer a new lab course called Biomarkers: Measurement & Interpretation, which will offer an in-depth understanding of how biomarkers are measured and why we use them.

Biomarkers are the things that are easy to measure that give us that systems-level interpretation, she said.

If students are interested in excavating artifacts and piecing together their place in our shared history, they may be inclined to visit the Public Archaeology Facility (PAF) in Science 1. Peppered throughout the room were artifacts excavated from across the Northeast, from rusted cannon balls from the French and Indian War to stone tools discovered in the Susquehanna River.

Its really cool to dig a hole and find things that people havent touched in either hundreds or thousands of years, said PhD student Kara Jonas.

PAF offers cultural resource management services to clients as well as community-based programs and a lab open to student volunteers.

Something that I really love is working with local communities (on a site), and having their input and their perspective completely change the stories that you can tell and the questions you can ask, Jonas said.

This summer, Maria ODonovan, the director of the Master of Arts in Public Anthropology program, will offer an archeology field school in Broome County, giving students the chance to gain a wide variety of archeological skills and earn 6 credits.

Archeology is that great combination of history and science, ODonovan said. For students who may be on the fence about anthropology, she offered some advice about where to begin: Start with an Intro to Anthropology course, where you can learn a little bit about all of the different four subfields, and then you can gauge whether youre interested in anthropology as a whole, and if you are, where your specific interests lie.

At Professor Rolf Quams paleoanthropology lab, skeletons of animals and skulls of human ancestors were prominently on display. A degree in paleoanthropology can offer students a chance to understand the wonders of human evolution by examining ancient fossils.

I really enjoy learning about human evolution, but theres also the capacity for traveling and digging up dirt, said PhD student and graduate teaching assistant Cai Caccavari, MA 23. There is a lot of biochemistry in the field, and we rely heavily on it for understanding the relationships beyond just looking at the morphology, because just looking at the bones can only get us so far.

Biochemistry is a crucial part of investigating the past and is used in various ways in the study of anthropology. Coupled with human evolution, students can investigate the growth of development of fossils while utilizing other tools such as CT scans.

If you like biochemistry and human evolution, you could go to graduate school, Caccavari said.

Lecturer Lubna Omars Archaeological Analytical Lab is devoted to the study of human-animal interactions through bone remains. Through zooarcheology, students can piece together small pieces of bones to create a vivid picture of the life of various animals.

It is a type of field for people with specific types of skills. You have to be into solving complex puzzles because the bones are fragmented, Omar said.

The work is closely tied to that of archaeologists, since in excavations, many bones are found in ancient garbage pits, she said.

Cultural resources management usually hires zoo archaeologists like me to help them with their work, otherwise they wont understand what happened at the site, she explained.

At the Archaeology Teaching Lab, Assistant Professor Sbastien Lacombe studies people of the past by analyzing their ancient technology. Students in his lab can also examine the social implications and purpose of crafting these technologies and see the variations of culture across different periods of human evolutionary history.

You have anthropology everywhere. Do you want to be a doctor? Biological anthropology. Do you want to work for the parks service? Archaeology, Lacombe said. Its the human dimension that distinguishes us from any other.

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Genetics

An hereditary liver disease cured with the help of gene scissors – EurekAlert

image:

The image depicts human skin stem cells from which new, liver-like cells have been differentiated. The hepatic biomarker APF produced by the differentiated cells is coloured red. The DNA of cell nuclei is displayed in blue.

Credit: University of Helsinki: Jalil, Keskinen et al.

Argininosuccinate lyase deficiency (ASLD), also known as argininosuccinic aciduria, is a disease that has been enriched in the Finnish genetic heritage. In this severe metabolic disease, the body does not process proteins normally, instead resulting in a very dangerous accumulation of argininosuccinic acid and ammonia. Excess ammonia causes disturbances of consciousness, coma and even death.

In Finland, infants are screened for ASLD to determine the disease risk before symptoms develop. The treatment is an extremely strict lifelong diet and, in severe cases, a liver transplant.

Researchers from the University of Helsinki and HUS Helsinki University Hospital have succeeded in correcting the gene defect associated with argininosuccinic aciduria and demonstrated that the harmful metabolism caused by the disease can be cured.

In their recently completed study, they initially modified the skin cells of patients with ASLD into stem cells. Subsequently, the researchers reprogrammed the disease-causing gene defects in the stem cells using the CRISPR-Cas9 technique, known as gene scissors. Finally, the researchers guided the corrected stem cells to differentiate into liver cells to see whether the disease that impairs hepatic function was actually cured and that the fixed cells no longer produced the harmful argininosuccinic acid.

In our study, we demonstrated for the first time that the gene defect causing ASLD can be corrected with gene scissors without any adverse effects visible in the cells. The gene-corrected cells were also metabolically improved, says Docent of Stem Cell Biology Kirmo Wartiovaara, specialist in medical genetics, from the University of Helsinki and HUS.

The study was published in the esteemed American Journal of Human Genetics.

In the study, the researchers used mRNA encapsulated inside lipid nanoparticles to get the gene scissors inside the cultured cells.

This gene mixture we produced is based on the formula of a pharmaceutical product already in use, which may facilitate its clinical use in the future. Our next goal is to cure ASLD in mice, says Doctoral Researcher Timo Keskinen from the University of Helsinki.

The same gene editing technique works on living animals and humans, but we dont yet know how safe it is. This is why the matter has to be investigated first in laboratory animals, Keskinen adds.

There are already more than 7,000 hereditary diseases in the world. Finns, as well as other populations originating in small groups of people, have their own genetic disease variants that are more common in the population than elsewhere in the world. Many of these gene variants of our distant ancestors are such that if a child inherits the same variant from both parents, they may develop a severe disease.

Treatments are available for only a handful of hereditary diseases, and curative therapies are even more rare.

However, a cure could be possible if the gene defect causing the disease is eliminated entirely. Thanks to basic research carried out with the help of gene scissors and other precise gene-editing techniques, permanent fixes are gradually starting to emerge, Wartiovaara says.

The study is part of the doctoral theses of Sami Jalil and Timo Keskinen, supervised at the Biomedicum Stem Cell Center of the Biomedicum Helsinki research institute by Docent Kirmo Wartiovaara and Mervi Hyvnen, DMedSc.

American Journal of Human Genetics

Genetic and functional correction of Argininosuccinate Lyase Deficiency in patient cells using CRISPR Adenine Base Editors

4-Apr-2024

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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An hereditary liver disease cured with the help of gene scissors - EurekAlert

Genetics

Resilience to periodic disturbances and the long-term genetic stability in Acropora coral | Communications Biology – Nature.com

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Genetics

INTERACT COALITION FORMED TO ADVANCE PATIENT ACCESS TO GENETIC TESTING FOR HEREDITARY … – PR Newswire

SAN DIEGO, April 3, 2024 /PRNewswire/ -- Leading commercial organizations and patient advocacy groups in the field of cancer genetics today announced the founding of the Inter-Organization Cancer Genetics Clinical Evidence Coalition (INTERACT), a coalition whose mission is to increase evidence-based access to genetic testing for people with or at risk of hereditary cancers.

Founding laboratory members include organizer Ambry Genetics, a subsidiary of REALM IDx, Illumina, Myriad Genetics, and Quest Diagnostics. Volpara Health has also recently joined the coalition. Founding patient advocacy organization members include AliveAndKickn and FORCE. The coalition seeks to provide a collective voice in support of the progression of medical professional and industry guidelines for genetic testing for inherited mutations that increase cancer risk.

With growing insight into the role of genetic testing in cancer risk management and treatment, the population of individuals who benefit from knowing their genetic mutation status continues to increase. As leaders in the genetic testing and hereditary cancer field, the founding members believe it is their responsibility to help drive awareness and inform changes that will equalize access for those whose outcomes could benefit most from testing.

One of the primary objectives of INTERACT is to ensure policy and guidelines keep pace with the growing body of evidence surrounding inherited cancer risk.

Hereditary cancer genetic testing has been shown to improve outcomes by identifying those most at risk and informing management strategies. For instance, patients who test positive for a BRCA1 or BRCA2 mutation have up to 87% lifetime risk for breast cancer, and up to 40% lifetime risk for ovarian cancer.1,2 In addition, there are numerous other genes that increase risk for various forms of cancer. Armed with this information, patients and physicians can improve management through increased surveillance, chemoprevention, targeted therapeutics or risk-reducing surgical measures. As an example, studies have shown that prophylactic mastectomy in BRCA1/2 mutation carriers results in up to a 97% reduction in the risk for contralateral breast cancer, while salpingo-oophorectomy reduced ovarian cancer incidence by 69-100%.1,2

Despite the benefits of a patient and their provider knowing mutation status, disparities in access and uptake of cancer genetics services are well documented.3 INTERACT intends to improve access to genetic testing, with the goal of reaching vulnerable populations who may not currently be aware of their risk or their need for increased screening or other interventions.

"With Lynch syndrome, one of the most common hereditary cancer syndromes, patients have up to 80% lifetime risk for colorectal cancer4, but an estimated 95% of at-risk individuals have not been identified5," said Robin Dubin, Executive Director of AliveAndKickn. "To really improve survival rates with informed screening strategies, we need to help drive education and policies that support genetic testing for all those at risk."

Among the challenges to broadening access to genetic testing for hereditary cancer risk is a time lag in updating guidelines and medical policies after the publication of new medical literature. INTERACT will work to bring these differences to the attention of guideline committees and medical professional societies in an effort to bridge the gaps and reduce disparities in access to appropriate testing nationwide.

About INTERACT The mission of INTERACT is to bring together specialized genetic testing laboratories and patient advocacy groups to support the progression and evolution of medical policy and industry guidelines for cancer genetic testing. Our members are recognized institutions in the field of cancer genetics. Current commercial members include Ambry Genetics, a subsidiary of REALM IDx, Illumina, Myriad Genetics, Quest Diagnostics, and Volpara Health. Advocacy members include AliveAndKickn and FORCE: Facing Our Risk of Cancer Empowered. We seek to develop the evidence base and rationale to inform changes in cancer-related genetic testing policies to expand patient access to evidence-based testing.

For more information, visit: https://interactcoalition.org/

References:

Contact: [emailprotected]

SOURCE INTERACT Coalition

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INTERACT COALITION FORMED TO ADVANCE PATIENT ACCESS TO GENETIC TESTING FOR HEREDITARY ... - PR Newswire

Genetics

Rare genetic variants found to have a large impact on obesity risk – Drug Target Review

Researchers have gained a deeper understanding of the neural biology of obesity, which could offer potential drug targets.

A new study has identified rare genetic variants in two genes, BSN and APBA1, that have some of the largest impacts on obesity risk discovered to date. Led by researchers at the Medical Research Council (MRC) Epidemiology Unit and the MRC Metabolic Diseases Unit at the Institute of Metabolic Science, both based at the University of Cambridge, whole exome sequencing of body mass index (BMI) was performed in over 500,000 individuals.

Obesity is a significant public health concern as it is a substantial risk factor for other serious conditions, including cardiovascular disease and type 2 diabetes. However, the genetic reasons for why some individuals are more prone to weight gain are not fully understood. Now, the new study indicates thatBSNandAPBA1play a role in the transmission of signals between brain cells, suggesting that age-related neurodegeneration could affect appetite control.

In the past, research has identified multiple obesity-associated gene variants conferring large effects from childhood, acting through the leptin-melanocortin pathway in the brain. The leptin-melanocortin pathway plays a crucial role in appetite regulation. Although BSNandAPBA1encode proteins found in the brain, they are not currently known to be involved in the leptin-melanocortin pathway. Additionally, unlike the obesity genes previously identified, variants inBSNandAPBA1are not associated with childhood obesity. This led the researchers to believe that they may have discovered a new biological mechanism for obesity. A better understanding of the neural biology of obesity may offer more potential drug targets to treat it in the future.

For the whole exome sequencing, the team used UK Biobank and other data. They discovered that genetic variants in the geneBSN, also named Bassoon, can increase the risk of obesity as much as six times. It was also associated with an increased risk of non-alcoholic fatty liver disease and of type 2 diabetes. The Bassoon gene variants were found to affect one in 6,500 adults, meaning they could affect about 10,000 people in the UK.

The scientists worked closely with AstraZeneca to replicate their findings in existing cohorts, using genetic data from individuals in Pakistan and Mexico. Notably, this enabled the team to apply their findings beyond people of European ancestry.

Dr Giles Yeo, study author based at the MRC Metabolic Diseases Unit, commented: We have identified two genes with variants that have the most profound impact on obesity risk at a population level weve ever seen, but perhaps more importantly, that the variation in Bassoon is linked to adult-onset and not childhood obesity. Thus, these findings give us a new appreciation of the relationship between genetics, neurodevelopment and obesity.

This study is published in Nature Genetics.

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Rare genetic variants found to have a large impact on obesity risk - Drug Target Review

Genetics

Christensen Genetics – AG INFORMATION NETWORK OF THE WEST – AGInfo Ag Information Network

Seth Christiansen of Christianson Genetics of Westin, Idaho, explained to me why winter is busier than summer for his operation. Today, our work centers on embryo transfer, and during the winter specifically would be when we do most of that. So during the summer, it's relatively empty Here. The cattle are out grazing during the normal growing season. That would be when they're out on pasture as opposed to being here in the dry lot through that whole winter feeding period. This would be the time when on a normal farm they wouldn't be doing nearly as much just because it's not the growing season. But while everything's frozen, that would be when we are synchronizing the cows, giving them a series of injections to bring them in to heat at the same time, and then doing embryo transfer on those cattle. So pulling embryos out of their very best 5% of the herd and transferring those embryos into the other 95% of the herd, there's about 400 animals total here. Only 20 of those are actually the mothers to the upcoming calf crop. They produce the embryos that are carried by the other cows. And as we implant all those embryos through the winter, the cows that conceive early, so conceive in that December, January time frame to carry one of those embryo transfer pregnancies, We'll keep those as part of the herd and we'll calve those cattle and raise those embryo transfer calves, the cows that conceive later on in the cycle. It's late for us, but it's right on time for most everybody else. If they conceive in March or April, they're going to have a January or February calf, which is when most seed stock operations prefer to calve by bringing in these cattle, doing all this extra work through the winter, we're able to add a lot of value to these animals. The average animal is going to come in to the program as an open female worth 1002 to $500 once we've done all of our winners were and added those embryos to those cows, confirmed those pregnancies through the winter, the average female there is going to be worth between$5000 and $6000.

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Christensen Genetics - AG INFORMATION NETWORK OF THE WEST - AGInfo Ag Information Network

Genetics

New form of EDS identified by mutation in THBS2 gene – Ehlers-Danlos News

A mutation in the gene THBS2 cause a newly defined form of Ehlers-Danlos syndrome (EDS) thats characterized by unusual flexibility as well as prolonged bleeding and blood vessel abnormalities, a new study reports.

The study, Heterozygous THBS2 pathogenic variant causes EhlersDanlos syndrome with prominent vascular features in humans and mice, was published in the European Journal of Human Genetics.

EDS refers to a group of connective tissue disorders that are typically characterized by symptoms including an abnormal range of joint motion and fragile skin. More than a dozen identified types of EDS exist, however, each with different causes and typical manifestations.

The patient at the center of this study is a woman in her late 20s of Ashkenazi Jewish ancestry who sought medical attention for a history of frequent joint dislocations, tendon rupture, easy bruising, and prolonged bleeding when injured. She also reported fatigue in her legs after exercising.

The patients older sister and their mother reported similar symptoms. Imaging studies showed blood vessel abnormalities: the younger sister and her mother both had unusual pooling of blood in veins in the lower legs; the mother also had abnormalities in a heart valve. Of note, the mothers father, who had a history of aneurysms (bulging or swollen blood vessels) while alive, had died of a blood vessel rupture.

The three women underwent EDS-specific genetic testing, but analyses of more than a dozen genes linked to EDS showed no noteworthy findings. A more widespread analysis identified 43 genetic variants that were in both sisters. Most of these were common in people of Ashkenazi Jewish ancestry and were ruled out, and a few others were ruled out by genetic testing of the extended family.

The researchers then zeroed in on a mutation in the THBS2 gene that was found in both sisters, but not their unaffected relatives or in databases of genetic samples from more than 7,000 Ashkenazi Jews.

Everyone inherits two copies of the THBS2 gene, one from each biological parent. In the sisters, just one copy of the gene carried a mutation (called p.Cys896Arg), indicating that this form of EDS is inherited in an autosomal dominant pattern where one mutated copy is sufficient to cause disease.

Our findings demonstrate that the THBS2 p.Cys896Arg variant has a dominant effect, the researchers wrote.

To confirm that this mutation was disease-causing, the researchers generated mice carrying the same mutation in the mouse version of the THBS2 gene. These mice demonstrated excessive flexibility in fact, the researchers said they were able to tie the mices tails into knots without causing the animals any notable distress. The mice also bled excessively when injured.

Upon lab evaluation of the mices tissue, the researchers noted that collagen fibers were disorganized. Collagen is the main protein that gives body tissue its structural integrity, and collagen abnormalities are a defining feature of EDS.

Altogether, these data define a new form of EDS caused by a mutation in the THBS2 gene. The scientists are working on further studies to understand the biological mechanisms of how THBS2 mutations lead to connective tissue abnormalities.

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New form of EDS identified by mutation in THBS2 gene - Ehlers-Danlos News

Pediatrics

Navigating Pediatric Diabetes: A Q&A With Leading Expert David Maahs, MD – Stanford Medicine Children’s Health Blog – Stanford Children’s Health

Diabetes management in pediatric patients has come a long way, with advancements such as continuous glucose monitors and automated insulin delivery systems. In a recent interview, David Maahs, MD, professor of pediatrics and division chief of pediatric endocrinology at Stanford Medicine and Lucile Packard Childrens Hospital Stanford, sheds light on the current state of diabetes care for children and adolescents.

The following Q&A is drawn from Stanford Medcast, Episode 71: Hot Topics Mini Series: Diabetes UnpackedMyths, Facts, and Tips, a podcast hosted by Ruth Adewuya, MD, CHCP, Managing director of the Stanford Center for Continuing Medical Education.

How has diabetes management for pediatric patients evolved, and what advancements are making a significant impact?

David Maahs, MD: Over time, there has been notable progress in diabetes care for children and adolescents. Continuous glucose monitoring (CGMs) have proven highly effective compared to traditional methods, with approximately 70% to 80% of our patients with type 1 diabetes now utilizing CGMs. Additionally, there are now five approved automated insulin delivery systems, providing diverse options for parents. While not everyone may embrace these technologies immediately, the overall landscape is consistently improving.

What are the primary goals in managing diabetes for pediatric patients, and do these goals vary with age or other factors?

The three main goals in pediatric diabetes care are maintaining a low A1C (a measure of your average glucose over the last three months), minimizing hypoglycemia, and prioritizing a good quality of life. Weve adapted to use continuous glucose monitoring metrics, focusing on achieving an average glucose or time in range between 70 and 180. Balancing these goals has become more achievable with the advancements in CGMs.

How do acute and long-term complications factor into pediatric diabetes management, and have there been improvements in addressing these concerns?

Acute concerns such as hypoglycemia have improved significantly with continuous glucose monitors and automated insulin delivery systems. For longer-term complications like damage to the eyes, nerves, kidneys, and heart, reducing A1C levels is crucial. The introduction of these new diabetes technologies and lower A1Cs will reduce these risks over time.

Engaging pediatric patients in their care is vital. How does the multidisciplinary team at Stanford Childrens approach this, and what challenges do you most commonly face?

We are fortunate to have a multidisciplinary team at Stanford Medicine Childrens Health, including certified diabetes care and education specialists, dietitians, social workers, psychologists, an exercise physiologist, and pediatric endocrinologists. Diabetes educators play a vital role in educating families, and the team works closely with patients during regular follow-up appointments. The challenges include the 24/7 nature of diabetes management, but continuous support and periodic monitoring help address these difficulties.

Transitioning from pediatric to adult care is a critical phase. How does Stanford Childrens ensure a seamless transition, and what are the key considerations during this process?

Transitioning from pediatric to adult care poses challenges across various health conditions. Our guided transfer program aims to facilitate this transition by introducing patients to adult care while still in the pediatric clinic, ensuring a warm handoff to the adult diabetes clinic. The approach minimizes the risk of patients getting lost during this crucial life phase.

Reflecting on your experience, what are the most rewarding aspects of working with pediatric patients with diabetes?

One of the joys of pediatrics is getting to know the families. Witnessing the growth of children, often entering their lives during a crisis, and seeing them thrive with the advancements in diabetes care is rewarding. The focus is not only medical management, but also on supporting the general well-being and quality of life of these young patients.

The pediatric endocrinology team at Stanford Medicine Childrens Health is ranked in the top 10 in Diabetes & Endocrinology by U.S. News & World Report and treats children with endocrine disorders at convenient locations throughout the Bay Area.

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Navigating Pediatric Diabetes: A Q&A With Leading Expert David Maahs, MD - Stanford Medicine Children's Health Blog - Stanford Children's Health

Pediatrics

Predicting Infection Risk in Childhood Cancer – News Center – Feinberg News Center

A statistical model can accurately predict the risk of bloodstream infections in a subset of children with cancer, according to a study published in the Journal of Clinical Oncology.

For children with cancer, fever is a common complication. While guidelines exist for managing fever in children with cancer who have very low white blood cell counts, no such guidelines exist for children with cancer without severely low levels.

Because of this, identifying patients with cancer and fever who are at a higher risk for bloodstream infections can be difficult, said Jenna Rossoff, MD, assistant professor of Pediatrics in the Division of Hematology, Oncology and Stem Cell Transplantation and a co-author of the study.

While some hospitals may choose to pre-emptively administer antibiotics to a feverish child being treated for cancer, that can lead to other complications such as antibiotic resistance later on, Rossoff said.

In the study, Rossoff and her collaborators sought to test a model developed to predict the risk of bloodstream infections, which can develop into sepsis, in feverish children with cancer.

This model has been designed to delineate bloodstream infection risk in these patients at presentation based on a variety of variables, and the overall goal is to reduce unnecessary antibiotic use and also identify patients obviously at high risk for a bloodstream infection, said Rossoff, who is also a member of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University.

To test the model, investigators collected data on fever episodes occurring in pediatric cancer patients from 18 academic medical centers. They then compared the models predictions to the seven-day clinical outcomes in each of the 2,500+ cases and found that the model could accurately predict which patients were more likely to experience bloodstream infections, according to the study.

The findings suggest the model accurately identifies high-risk patients and could reduce unnecessary antibiotic use, Rossoff said.

Importantly, the paper showed that in the patients whose predicted risk for bloodstream infections using this model was low, there was a very low rate of true bloodstream infections, Rossoff said. For those few percent of patients who did have a bloodstream infection, there were no severe outcomes.

Moving forward, Rossoff said she would like to see more studies done testing the model in children with cancer who have undergone stem cell transplants and other novel therapies.

Fevers are a pretty frequent complication during treatment and when our kids dont need antibiotics, we should be avoiding them to prevent antibiotic resistance and disruption of the gut microbiome, she said. As much as we can safely safely being the key word decrease antibiotic administration, that would be a great thing overall.

The study was supported by the National Center for Research Resources Grant KL2TR000446.

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Predicting Infection Risk in Childhood Cancer - News Center - Feinberg News Center