Sunday, October 30, 2022

 


kidneys


Acute kidney injury occurs (AKI) in one out of four babies, children and young adults during an intensive care stay for any reason, and yet the condition is poorly understood. It is associated with various treatments or diagnostic procedures that hospitalized children undergo, and it is often the result of significant infection.

About 15% of kids with AKI do not survive, compared to a 2% overall mortality rate for children requiring pediatric intensive care. Many children who experience AKI will need dialysis treatment, and kids with AKI are at higher risk for chronic kidney disease later in life (one in three). Despite these alarming numbers, knowledge about this condition is limited and only recently has there been focus on the aspects of this disease process in children.

“At this stage, we are only at the cusp of understanding why AKI occurs, how to diagnose it early, track it in real time, prevent it, nor how to care for it. We don’t have standards to manage care for children and have been using adult recommendations. Children are unique and deserve their own precise directives,” said Rajit Basu, MD, MS, Division Head of Critical Care Medicine at Ann & Robert H. Lurie Children’s Hospital of Chicago, who chaired the first pediatric international conference on AKI that resulted in an expert consensus statement published in the journal JAMA Network Open.

Dr. Basu is the senior author on this publication, in which 46 global experts identify key issues in pediatric AKI and set a focused research agenda for the next five to 10 years. “It is a rallying cry for greater attention to this condition in children,” he said.

“In order to improve care and reduce the morbidity and mortality associated with AKI in kids, we need to understand more about the unique aspects of which populations of children are at highest risk, how to modernize our diagnostics, ways to incorporate and optimize therapeutics, how development and age (differences between babies and teenagers for instance) impact this wide-ranging condition, and the importance of nutrition, fluid accumulation and other factors that are unique to children,” said Dr. Basu, who also is a professor of Pediatrics at Northwestern University Feinberg School of Medicine and holds the Posy and John Krehbiel Professorship in Critical Care Medicine.

“This work helps the field organize and work together to establish guidelines and research for pediatric AKI and its various severity levels, and we need to develop evidence-based practice and research to drive quality care and better outcomes for these children. Within the last decade we have been accumulating more and more data that brought us to this exciting moment, but we’re just at the tip of the iceberg of our fight against AKI for children.”


International Conference on Pediatrics, Perinatology and Child Health

12th Edition of PPCH | 12-14 December 2022 | Dubai, United Arab Emirates (Hybrid) Visit: pediatrics.pencis.com #PediatricsConferences #Perinatology #childHealth

 

Children with HIV at greater risk for impaired neurological development

HIV

New research in Zambia finds that children infected with HIV are significantly more likely to do worse in neurological assessments despite having well-controlled HIV disease, suggesting that they may struggle with cognitive and mental health issues. However, the research also indicates that early intervention—in the form of better nutrition and antiretroviral therapies—may help close the gap.

“HIV remains a major global health burden and children who are exposed to the virus during childbirth are known to be at greater risk for neurocognitive and psychiatric problems, like depression, as they age,” said David Bearden, M.D., assistant professor of Neurology and Pediatrics at the University of Rochester Medical Center (URMC) and senior author of the study, which appears in the Journal of Acquired Immune Deficiency Syndromes.

“This research is an attempt to understand if these problems persist and become more pronounced over time, and whether we can predict who will do well cognitively and who will not.”

The study is the most recent example of a decades-long collaboration involving an international team of researchers. Since 1994, URMC neurologist Gretchen Birbeck, M.D., has partnered with the Government of Zambia and clinicians and researchers with the University Teaching Hospital (UTH) in Lusaka, Zambia to study neurological problems associated with infectious diseases like HIV and malaria, which remain major public health problems in sub-Saharan Africa.

The Neurology Research Office established by Birbeck on the main hospital campus now serves as a hub for several National Institutes of Health-funded research and training programs that have helped grow the number of UTH neurologists and clinical research staff and increase opportunities to collaborate with URMC neurologists, medical students, and trainees.

The new findings come from the HIV-Associated Neurocognitive Disorders in Zambia (HANDZ) study, an ongoing longitudinal study that is following a cohort of 600 HIV positive and negative Zambian children ages 8 to 18 for 5 years.

With approximately 70 percent of global cases, Sub-Saharan Africa is disproportionately impacted by HIV. While combination antiretroviral therapy (cART) is widely accessible, many infected children still go on to experience associated neurocognitive and psychiatric deficits, such as delayed academic development and depression.

Participants in the HANDZ study were asked to complete a series of neurocognitive assessments, using an instruments called the NIH Toolbox Cognition Battery, which measure several cognitive processes, including processing speed, reaction time, memory, and executive function. They found that HIV positive children on cART did significantly worse on the cognitive measures at baseline and did not improve over the two-year study period, compared to their HIV negative peers.

The data suggests interventions that could improve neurological function. Children who were malnourished or who suffered more severe cases of HIV infection did worse on the assessments.

“These findings suggest that one of the most important thing that we can do is find kids with HIV early and get them on antiretroviral therapy, because if kids don’t get real sick from HIV, then they do much better cognitively,” said Bearden.

“The other key factor here is the nutritional piece and we’re doing more research to try to figure out exactly what kind of support could help improve cognition or prevent cognitive impairment in this population.”


International Conference on Pediatrics, Perinatology and Child Health

12th Edition of PPCH | 12-14 December 2022 | Dubai, United Arab Emirates (Hybrid) Visit: pediatrics.pencis.com #PediatricsConferences #Perinatology #childHealth

 



Non-white newborns with cystic fibrosis more likely to be missed in screening

Estimated case detection of ≥1 CFTR variant by Illumina139. CFTR, cystic fibrosis transmembrane conductance regulator. Credit: Pediatric Pulmonology (2022). DOI: 10.1002/ppul.26209

Researchers call for better newborn screens across the U.S.

Cystic fibrosis is missed more often in newborn screenings for non-white than white babies, creating higher risk for irreversible lung damage and other serious outcomes in Black, Hispanic, Asian, American Indian and Alaska Native newborns, a new study finds.

The genetic panels used in newborn screening programs vary by state, but most tend to test for cystic fibrosis gene mutations that are common in white populations while excluding mutations more common in non-white populations, said Meghan McGarry, MD, associate professor of Pediatrics at UC San Francisco (UCSF) Benioff Children’s Hospitals and first author of the study, published in Pediatric Pulmonology.

“Newborn screenings are meant to be a public health measure that is equal across populations, but in practice, we are actually creating disparities because children of color are going undiagnosed for cystic fibrosis until an older age,” McGarry said. “That means they are treated later when symptoms occur, and their outcomes are often worse.”

Cystic fibrosis is one of the most common genetic disorders, with about 1,000 new cases diagnosed each year. The disease causes the malfunction of a protein that helps regulate mucus, which can lead to blockages and trapped germs and eventually, infections such as bronchitis and pneumonia. Early diagnosis and treatment can reduce severe symptoms, such as failure to thrive, and is associated with improved nutrition, better pulmonary outcomes, and survival.

Better screenings needed

To determine case detection rates, researchers analyzed the genetic mutations of 46,729 people in the 2020 Cystic Fibrosis Foundation Patient Registry, then calculated the rate of delayed diagnosis or false-negative tests by race and ethnicity. They also compared data across states.

In most states, a newborn screen is positive only when at least one disease-causing variant of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is detected. This study found the detection rate of at least one CFTR variant in known cystic fibrosis patients was 56-77% in Asian patients, 73-86% in Black patients, 84-91% in American Indian and Alaskan Native patients, and 81-94% in Hispanic patients, compared to 95-97% in white patients. The differences between races and ethnicities were even larger when the tests aimed to detect two CTFR variants instead of just one.

Non-white newborns with cystic fibrosis more likely to be missed in screening
Estimated case detection of 2 CFTR variants by Illumina139. CFTR, cystic fibrosis transmembrane conductance regulator. Credit: Pediatric Pulmonology (2022). DOI: 10.1002/ppul.26209

The states with greater racial and ethnic diversity had lower detection rates for each variant panel. Likewise, detection rates were higher overall with genetic panels that included more variants compared to fewer variants, though this wasn’t the case for all races/ethnicities.

“In order for newborn screenings to be equitable, they must include CTFR variant panels that reflect the racial and ethnic diversity of the population,” McGarry said. “Three states—Wisconsin, New York and California—do this well and use full sequencing, as well as systematically monitor and review who is being missed, what variants they had, and whether they should be adding variants to the panels.”

While race and ethnicity are social constructs, the genes that cause cystic fibrosis do vary by race, ethnicity and region, said Susanna McColley, MD, professor of Pediatrics at Northwestern University Feinberg School of Medicine and physician at Ann & Robert H. Lurie Children’s Hospital of Chicago, as well as senior author on the study.

“The bias in newborn screening testing is coupled with clinician bias against diagnosis of cystic fibrosis in Black, Hispanic, Asian, and American Indian/Native Alaskan babies that can have fatal consequences,” said McColley. “We hope this work will lead to more equitable screening in all states.”

‘Two diseases’ based on race

About 20% of cystic fibrosis cases are from racial and ethnic minority groups, and the disease occurs in people of all ethnicities and races across the U.S. The delays in detection and treatment for non-white patients has essentially created two diseases, noted McGarry.

“Most white kids with cystic fibrosis nowadays are never hospitalized; for them, it’s an outpatient disease and they will likely live a full life. If you are not white, however, you are more likely to be the one in the hospital all the time with a severe disease,” McGarry said. “We have a young patient now who had a normal newborn screen, and he wasn’t diagnosed with cystic fibrosis until he was on the ventilator and intubated with multiple pneumonias and permanent lung damage.”

The goal is to diagnose children before they are a month old to prevent irreversible harm, she added.

“As early as four weeks, you can already see permanent lung damage. Some even have symptoms in utero, though most undiagnosed babies start having respiratory symptoms around 4-8 weeks,” McGarry said. “There is good research showing that if you can get diagnosed through newborn screening before having a lot of disease—rather than being diagnosed with symptoms—you have much better outcomes in the long term.”


International Conference on Pediatrics, Perinatology and Child Health

12th Edition of PPCH | 12-14 December 2022 | Dubai, United Arab Emirates (Hybrid) Visit: pediatrics.pencis.com #PediatricsConferences #Perinatology #childHealth

 

What is a tripledemic? NC pediatricians brace for possible ‘Tripledemic’ in children: RSV, Flu and COVID


Nancy Soliman has two children–a seven-year-old boy and five year old little girl. She’s doing what she can to keep her kids safe from respiratory cases this season.

“We are staying on top of them,” Soliman said.

She said they try to include family time outside, getting fresh air.

“We’re trying to keep them outdoors, fresh air as it goes along the way. Washing our hands, taking care of ourselves, just trying to be healthy and active, I think is very important too,” she continued.

But as hard as some parents are trying to keep their children healthy, doctors are still seeing a surge of sick kids

“We are struggling with RSV, but we’re struggling with flu coming in as well,” Dr. Benny Joyner said. Joyner is the Division Chief of Pediatric Critical Care Medicine at UNC Children’s Hospital. He said the numbers that they’re seeing for RSV cases are significantly higher than the numbers they saw pre-pandemic.

“The numbers that we’re seeing, just by the sheer volume we’re seeing of kids needing that support are pretty striking. Half of my unit right now is currently some form of viral illness, whether it’s RSV rhinovirus, enterovirus, or flu,” Joyner explained.

He said 30 percent of the tests they’re running are positive for RSV, and that’s about three times where they normally are.

What’s worse? Dr. Joyner said its not peak season for RSV or Flu.

“It has been consistent and in a very sort of long period of time in which we’ve seen weeks of just really significant numbers of patients with viral respiratory illnesses, and there’s no letting up.”

Pediatrician Dr. Christoph Diaso with Sandhills Pediatrics said things have also been busy for him.

“Things have definitely picked up and increased. My colleagues who work in the hospital say that they’re just absolutely beyond busy. And, you know, we’re all trying to do what we can at a time that, a lot of the staff is really pretty tired, Dr. Diaso said.

Dr. Diaso, who is also the immediate past president of the North Carolina Pediatrics Society said resources are stretched, but there is good news in this sick season. He reminded parents there are vaccines that can protect your children from the flu and COVID.

“We still have a lot of people out there who have not gotten their vaccines yet. You know, the CDC has made a campaign for years to say boo to the flu, to try to encourage folks to get their flu vaccine before Halloween, I would still encourage everyone to do that,” explained Diaso.

Soliman shared her kids are vaccinated and she will continue taking precautions. “We’re not going to hide from life and just living and being kids and being a normal part of society. So just take it as it is. And you know, I mean, not be fearful but not fearless, but just continue to live life.”

RSV can show up as mild cold-like symptoms such as runny nose, cough and fever. People infected are usually contagious for three to eight days.

International Conference on Pediatrics, Perinatology and Child Health

12th Edition of PPCH | 12-14 December 2022 | Dubai, United Arab Emirates (Hybrid) Visit: pediatrics.pencis.com #PediatricsConferences #Perinatology #childHealth


 

Video games could improve kids’ brains: study


Children play a video game called League of Legends in Rio de Janeiro, Brazil; a large new US study published in JAMA Network Op

Children play a video game called League of Legends in Rio de Janeiro, Brazil; a large new US study published in JAMA Network Open indicates there may be cognitive benefits associated with video gaming.

Parents often worry about the harmful impacts of video games on their children, from mental health and social problems to missing out on exercise.

But a large new US study published in JAMA Network Open on Monday indicates there may also be cognitive benefits associated with the popular pastime.

Lead author Bader Chaarani, an assistant professor of psychiatry at the University of Vermont, told AFP he was naturally drawn to the topic as a keen gamer himself with expertise in neuroimagery.

Prior research had focused on detrimental effects, linking gaming with depression and increased aggression.

These studies were however limited by their relatively small number of participants, particularly those involving brain imaging, said Charaani.

For the new research, Chaarani and colleagues analyzed data from the large and ongoing Adolescent Brain Cognitive Development (ABCD) Study, which is funded by the National Institutes of Health.

They looked at survey answers, cognitive test results, and brain images from around 2,000 nine- and ten-year-olds, who were separated into two groups: those who never played games, and those who played for three hours or more a day.

This threshold was chosen as it exceeds the American Academy of Pediatrics screen time guidelines of one or two hours of video games for older children.

Impulses and memory

Each group was assessed in two tasks.

The first involved seeing arrows pointing left or right, with the children asked to press left or right as fast as they could.

They were also told to not press anything if they saw a “stop” signal, to measure how well they could control their impulses.

In the second task, they were shown people’s faces, and then asked if a subsequent picture shown later on matched or not, in a test of their working memory.

After using statistical methods to control for variables that could skew results, such as parental income, IQ, and mental health symptoms, the team found the video gamers performed consistently better on both tasks.

As they performed the tasks, the children’s brains were scanned using functional magnetic resonance imaging (fMRI). Video gamers’ brains showed more activity in regions associated with attention and memory.

“The results raise the intriguing possibility that video gaming may provide a cognitive training experience with measurable neurocognitive effects,” the authors concluded in their paper.

Right now it’s not possible to know whether better cognitive performance drives more gaming, or is its result, said Chaarani.

The team hope to get a more clear answer as the study continues and they look again at the same children at older ages.

This will also help exclude other potential factors at play such as the children’s home environment, exercise and sleep quality.

Future studies could also benefit from knowing what genres of games the children were playing—though at age 10 children tend to favor action games like Fortnite or Assassin’s Creed.

“Of course, excessive use of screen time is bad for overall mental health and physical activity,” said Chaarani.

But he said the results showed video games might be a better use of screen time than watching videos on YouTube, which has no discernible cognitive effects.


12th Edition of PPCH | 12-14 December 2022 | Dubai, United Arab Emirates (Hybrid) Visit: pediatrics.pencis.com #PediatricsConferences #Perinatology #childHealth


Friday, October 28, 2022












MONDAY, Aug. 29, 2022 (HealthDay News) — Recent years have seen several high-profile cases of doctors sexually abusing young patients. Now the American Academy of Pediatrics (AAP) is issuing new recommendations aimed at prevention.

Medical visits are usually a safe place for children and teenagers, but when abuse does happen, it is an egregious violation.

One reason, the AAP says, is because parents and kids trust that health care providers are looking out for their welfare.

Experts who were not involved in the recommendations pointed to another central issue: the imbalance of power and knowledge. In a medical setting, young patients and parents may not even know when abuse has occurred.

“This is not a high-risk setting, but it is a complicated setting,” said David Finkelhor, director of the Crimes Against Children Research Center at the University of New Hampshire. “Health care providers have tremendous authority. They’re expected to do physical exams, they’re expected to do things that other people cannot.”

Perhaps the most infamous cases is that of Larry Nassar, a former team physician for USA Gymnastics who was accused of assaulting at least 265 girls under his care between 1992 and 2014. Many victims were sexually abused at every visit, under the guise of medical care — often with their parents in the room.

“The health care provider is someone you trust, and in the moment, you’re so vulnerable,” said Melissa Merrick, president and CEO of the nonprofit Prevent Child Abuse America.

When a violation occurs, she added, the victim may only realize it at some point later on.

Merrick said she was glad to see the AAP issuing its recommendations.

Child abuse prevention is an adult responsibility,” she said. “It’s everybody’s business — everybody who comes into the life of a child.”

As a basic step, the AAP says medical facilities should do background checks on all staff and volunteers who will have contact with children, looking for any past allegations of abuse. That, however, is not adequate on its own, the group adds, since less than 1% of people who molest children have a criminal record.

The recommendations also advise having explicit policies around “sensitive” exams (involving the genital area or breasts), as well as training on staff-patient boundaries and how to report possible abuse by colleagues. That’s in part because those policies send a message to potential perpetrators that patient abuse will not be tolerated, the AAP says.

“Chaperones” are one specific safeguard. Any time a doctor is performing a sensitive exam, another medical professional, such as a nurse, should be present, the AAP says. Parents are not considered adequate chaperones, because they do not know whether proper procedures are being followed.

Finkelhor said chaperones are helpful, though “not foolproof.” He encouraged parents and kids to speak up and ask questions if they are ever uncomfortable with something a health care provider is doing.

Ideally, doctors should be proactive in that regard. The AAP stresses that they should explain why a sensitive exam is being done, as well as each step in the exam.

That’s a critical recommendation, Merrick said. But whether it happens in real life — or whether patients and parents feel a doctor’s explanation was clear — is a different matter.

Merrick agreed that in those cases, parents and kids should trust their instincts and speak up if they have questions.

Child sexual abuse is, unfortunately, common: Studies estimate that in the United States, up to 25% of girls and 10% of boys have been victimized. There are no good statistics on the prevalence of child sexual abuse in health care, specifically, according to the AAP.

Finkelhor pointed to what he thinks is likely a much more common problem: poorly done sensitive exams. That is, exams where a doctor has no intention of abuse, but does not explain or conduct the procedure properly.

“There are certainly children who have been harmed by an incompetently done sensitive exam,” Finkelhor said.

Among its recommendations, the AAP says pediatricians need specific training in how to conduct those exams. That same standard should go for any doctor who treats children, Finkelhor said, noting that many kids see family physicians or other primary care doctors.

Merrick agreed that such training is key.

Health care providers should recognize that this is probably an uncomfortable experience for a child,” she said. “It needs to be done properly and sensitively.”

 

Discovery of endocannabinoid gene mutation leads to identification of new, rare pediatric neurological disease

Immunofluorescence studies. Representative photomicrographs of immunofluorescence for DAGLA in HEK293T cells transfected with either wild-type (WT) or mutant (Mut) DAGLA cDNA (A) and in patient-derived fibroblasts (P) and control (C) cells from an unaffected individual (B). DAPI was used for nuclear counterstain. Scale bars = 50 µm. Accompanying bar graphs represent quantification of the number of cells with perinuclear (perinucl) aggregation (arrows) or membrane-bound (membr) DAGLA. Graphs: bars indicate the mean and error bars the standard deviation. Two-tailed Student’s t-test determined P-values. Credit: Brain (2022). DOI: 10.1093/brain/awac223

In a study published in the October 2022 issue of Brain, researchers from Rady Children’s Institute for Genomic Medicine (RCIGM) and the University of California San Diego School of Medicine describe their discovery of a new clinical syndrome, Neuro-Ocular DAGLA-related Syndrome (NODRS), in children with termination variants in the diacylglycerol lipase alpha (DAGLA) gene which encodes an enzyme in the brain that is involved in the signaling pathway of the endocannabinoid (eCB) system.

In the study, the authors assessed nine children from around the world who displayed unique neuro-ocular traits including developmental delays, difficulties with balance and walking, abnormal eye movements and head nodding. In each child, truncating variants in the last exon of DAGLA were found to be the cause of their unique pediatric syndrome. Because enzymatic activity was preserved, the observed mis-localization of the truncated protein may account for the observed phenotype.

“The phenotype and genotype are exceedingly well linked, which is unusual,” said Jennifer Friedman, MD, the study’s principal investigator, Clinical Professor of Neurosciences and Pediatrics at UC San Diego and Clinical Investigator at RCIGM. “The clustering of pathogenic DAGLA variants in these children may provide insight into the mechanism of disease.”

DAGLA is a critical component of the eCB pathway, involved in a broad array of physiological functions. In the developing brain, the eCB signaling pathway has important influences on neural development, signaling, and brain repair. In the mature nervous system eCBs regulate short- and long-term suppression of neurotransmitter release. The ubiquitous nature of this pathway, and evolutionary conservation imply a central role in human health and disease. Despite this, no defined human disorders have previously been conclusively linked to mutations in the genes encoding components of this pathway until now.

“This is the first report linking an endocannabinoid system component, DAGLA, with a human genetic disorder, NODRS, and provides us with a better understanding of the role of endocannabinoids in health and disease,” said Dr. Friedman. “Mutation in DAGLA was initially identified by researchers at The Scripps Research Translational Institute.”

“This work is more than a description of a rare pediatric disease; it is the leading wedge into better understanding how human health is impacted by cannabinoids; findings from this study may open the doorway to new, cannabis-derived medications for a broad range of disorders, since we know that cannabinoid receptors in the eCB system exist throughout a person’s body, not just in the brain,” said Matthew Bainbridge, Ph.D., Assistant Director of Translational Research at RCIGM and lead author.

“This is an idea that we have not considered before because we did not know the gene involved and the exact role of these receptors. Knowing the gene means knowing the pathway and what types of therapeutics might be beneficial.”

Dr. Bainbridge also believes that with a diagnosis, parents of a child living with NODRS now have the opportunity to come together as a community to share experiences, knowledge and hope with those who understand. Children presenting with these types of symptoms should be more easily diagnosed now that the gene for this super rare disease has been identified. “It’s high time for a gene mutation linking the endocannabinoid system to human disease,” Dr. Bainbridge concluded.

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