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Pediatrics

Hypoglossal nerve stimulation offers hope for pediatric Down syndrome patients with OSA – News-Medical.Net

While Obstructive Sleep Apnea (OSA) affects about five percent of the general pediatric population, 80 percent of children with Down syndrome experience OSA. Continual OSA results in poor health, including disruptions to cognitive development and functioning, leading physician-researchers from Mass General Brigham to investigate better methods to treat these patients as early as possible to maximize their health outcomes.

In a new case study published April 11 in Pediatrics, they report on a 4-year-old boy with Down syndrome and OSA who underwent a procedure to implant a hypoglossal nerve stimulation device, and experienced improvements thereafter.

Currently, adenoidectomies and tonsillectomies are among first-line treatments for pediatric OSA, however they are not always effective for children with Down syndrome because OSA can recur. Additionally, continuous positive airway pressure (CPAP) treatment, which streams compressed air into airways during sleep, is often not tolerated by children with Down syndrome due to sensory sensitivities.

The hypoglossal nerve stimulation device by Inspire has been an option increasingly used to treat OSA in adults since its 2014 FDA-approval. The device detects when the airway is blocked and sends an electrical pulse to the hypoglossal nerve that controls the tongue, causing it to move forward in the mouth, thereby opening the airway. Positive treatment data in adults first led lead study author Christopher Hartnick, MD, director of Pediatric Otolaryngology at Mass Eye and Ear, to wonder whether the treatment may help his patients with Down syndrome whose lives were impacted by OSA. With Mass General Brigham colleague Brian Skotko, MD, MPP, the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital, they organized a clinical trial looking at the safety and effectiveness of the procedure in children between the ages of 10 and 22 with Down syndrome. Results of a 42-patient trial showing the benefits and safety of the procedure were published in 2022, leading to FDA approval for the device for adolescents with Down syndrome over the age of 13 nearly a year later.

These results spurred the researchers to examine whether the procedure could benefit younger children who are impacted by the physical and neurocognitive effects of OSA during pivotal developmental years.

Hartnick and Skotko identified a patient candidate, 4-year-old Theodore "Theo" Scott of Knoxville, Tenn., who had been on CPAP therapy since he was 1 year old.

After Hartnick and his team had extensive discussions about potential risks with colleagues in other medical specialties and Theo's parents, Rachel and Andrew Scott, a surgery took place in May 2023. The surgery was successful without complications, and the procedure was modified to allow for Theo's continued growth.

After one month, Theo experienced an improvement in sleep, and his obstructive apnea-hypopnea index (a measure of apnea severity) decreased by 40 percent. Additional follow-up care will take place for Theo to monitor effects of the procedure on neurocognition and surveillance of the device as he grows.

"The most significant change we have seen is the amount of sleep Theo is now getting, routinely over 10 hours a night versus what we experienced with CPAP where he would pull his mask off up to fifteen times a night. Theo sleeping through the night has also benefitted us as parents since we would need to get up and assist him, and we could each feel the toll poor sleep was taking on our health," Rachel and Andrew Scott said in a statement. "We have also noticed Theo wakes up more easily in the morning and has a longer attention span than before the surgery, and his language development has accelerated from one-word statements to multiple word sentences. This procedure has absolutely been a game-changing intervention in Theo's life and in our family's."

Hartnick and Skotko are currently leading an NIH-sponsored 4-year trial examining the impact of upper airway stimulation on neurocognition and language in young patients with Down syndrome.

Children with Down syndrome are disproportionally affected by obstructive sleep apnea and often don't benefit from traditional interventions, and research shows this impacts their cognitive development and IQ scores. The potential long-term impact on neurocognition was a major driver of our team and the family's shared decision-making to pursue this treatment, and this case suggests it may be a possible option for some families."

Christopher Hartnick, MD,Director of Pediatric Otolaryngology at Mass Eye and Ear

"In our Down Syndrome Program, I see first-hand how frustrated families become when their child with Down syndrome runs out of options to treat significant sleep apnea," said Skotko. "Theo now opens up a new frontier for research and potential clinical care."

Source:

Journal reference:

Wasserman, I.,et al.(2024) Hypoglossal Nerve Stimulation for Obstructive Sleep Apnea in a Young Child With Down Syndrome. Pediatrics. doi.org/10.1542/peds.2023-063330.

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Hypoglossal nerve stimulation offers hope for pediatric Down syndrome patients with OSA - News-Medical.Net

Pediatrics

Receptor targeting to identify medications for pediatric mental health concerns – Contemporary Pediatrics

In this Contemporary Pediatrics video interview, Joanne M. Howard, MSN, MA, RN, CPNP-PC, PMHS & Anne Craig, MSN, RN, CPNP-PC, of C.S. Mott Children's Hospital, Ann Arbor, Michigan, highlight their session titled "Pediatric Psychopharmacology: Understanding Receptor Targets to Identify Medications That May Work Best for Children and Teens," presented at the 2024 NAPNAP National Conference.

Their session explored psychopharmacologic agents used in the pediatric population, with a focus on their interactions with receptor targets in the brain and body.

"[We wanted to] take a deeper dive into the medication management for pediatric mental health disorders and empower our [colleagues] out there in the community to maybe be more comfortable or knowledgable about managing things like depression, anxiety, aggressive behaviors, or ADHD," said Howard.

"We gave an overview of what neurotransmitters are, and then focused on the neurotransmitters monoamines that are implicated in psychopathology or development of many psychiatric disorders," added Craig. "We wanted to approach it from what [a particular] medication is targeting, what receptors, and how does that translate into a clinical effect."

Click here for more NAPNAP coverage.

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Receptor targeting to identify medications for pediatric mental health concerns - Contemporary Pediatrics

Pediatrics

Efforts to reduce wait times for developmental evaluations – Baylor College of Medicine | BCM

In the state of Texas, there are over 500,000 children and adults with IDD (intellectual or developmental disabilities inclusive of autism spectrum disorder (ASD), intellectual disability, and related conditions). Additionally, thousands more have learning and/or attention difficulties (ADHD, dyslexia, etc.).

Children referred to a developmental-behavioral pediatrician often wait well over a year for a developmental evaluation. This delay in assessment is even more problematic in light of evidence that has demonstrated the importance of early recognition and intervention in achieving optimal outcomes for children with developmental diagnoses such as autism or intellectual disability.

This problem is not unique to Texas. There are just over 700 board-certified developmental-behavioral pediatricians nationally (compared to nearly 3,000 pediatric cardiologists in 2021, for example) and wait times are similar for developmental pediatrics clinics nationwide. This problem does not end after childhood. In fact, even fewer physicians providing primary care for adults have received training in healthcare transition or adult care for individuals with intellectual and developmental disabilities (IDD) and autism.

The Maternal Child Health Bureau (MCHB), a branch of the Health and Resource Services Administration (HRSA), has responded to this workforce crisis by offering a select number of Developmental-Behavioral Pediatrics (DBP) Training Grants to academic medical institutions across the nation. For the first time, Baylor College of Medicine is the recipient of a DBP training grant as of July 2023.

Project directors Dr. Holly Harris, assistant professor of pediatrics in the section of developmental and behavioral pediatrics, and Dr. Jordan Kemere, assistant professor of internal medicine in the section of transition medicine, were awarded just over 1.3 million to be distributed over the 5-year grant cycle. The majority of the activities for the DBP Training Grant are housed at the Meyer Center for Developmental Pediatrics and Autism at Texas Childrens Hospital, in addition to the Transition Medicine Clinic at Baylor and Texas Childrens. DBP trainees and faculty also interface with the Harris Health System to provide developmental evaluations to children at the Pasadena Pediatric and Adolescent Health Center.

The grant objectives are to train the next generation of leaders in DBP, to provide continuing education and technical assistance to providers and agencies caring for individuals with IDD/autism, and ultimately increase access to care.

This funding will allow Baylor to expand its DBP Fellowship program by increasing the number of incoming trainees and by facilitating more robust recruitment activities. The funding also supports a novel one-year Transition Lifespan Fellowship, a nationally unique offering that trains a physician specifically in healthcare transition and lifespan care for individuals with IDD and autism, a priority within the Autism Cares Act of 2019 and HRSA/MCHBs Blueprint for change.

Along with training subspecialists, the grant funding also supports a unique training opportunity for primary care pediatricians (PCPs) interested in honing their skills in developmental assessment. This training enables a pediatrician to confidently diagnose and provide appropriate recommendations for straightforward cases of developmental conditions, such as autism or intellectual disability, in the medical home. Not only are children and families able to work with a provider with whom they have had continuity of care, but they also are able to immediately access appropriate interventions without waiting for a specialist assessment. Thus far, there has been overwhelming interest in this position from primary care pediatricians across the Houston area.

The grant faculty are also planning to conduct needs assessments of local community agencies to determine how to best support individuals in the community who are providing care for individuals with IDD and autism. Surveys with underserved populations, including Spanish-speaking families and transition-aged youth, are also underway. These will allow us to understand the needs of our population better so that we can construct our educational offerings accordingly. The DBP workforce crisis will clearly take time to address, but investigators at Baylor are excited to play a part in moving the needle through education and, ultimately, increased access to care for individuals and families of individuals with IDD.

By Dr. Holly Harris, assistant professor of pediatrics, program director, developmental-behavioral pediatrics fellowship at Texas Childrens Hospital/Baylor College of Medicine and Dr. Kathryn Jordan Kemere, assistant professor of medicine transition medicine at Baylor College of Medicine

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Efforts to reduce wait times for developmental evaluations - Baylor College of Medicine | BCM

Pediatrics

Nasal oxidative stress mediating the effects of colder temperature exposure on pediatric asthma symptoms | Pediatric … – Nature.com

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Nasal oxidative stress mediating the effects of colder temperature exposure on pediatric asthma symptoms | Pediatric ... - Nature.com

Pediatrics

Week in review: A new dermatology case study, and a new treatment for severe asthma – Contemporary Pediatrics

Thank you for visiting the Contemporary Pediatrics website. Take a look at some of our top stories from last week (Monday, April 8, to Friday, April 12, 2024), and click on each link to read and watch anything you may have missed.

1.) Young woman with tick bites presents with erythematous papules, headaches, and fatigue

A young woman with no significant past medical history returns from hiking with several white-spotted ticks and experiences erythematous papules, rashes, headaches, and fatigue. Whats the diagnosis?

Click here for the full case, differential diagnosis, and case diagnosis.

2.) FDA approves benralizumab for children aged 6 to 11 years with severe asthma

The FDA approval of benralizumab for patients ages 6 to 11 with asthma follows the conclusions of the phase 3 TATE study. Click here for full FDA approval details.

3.) FDA approves dolutegravir/lamivudine to treat HIV infection in adolescents

The indication is approved for those with no antiretroviral (ARV) treatment history or to replace current ARV regimen in those, "are virologically suppressed (HIV-1 RNA less than 50 copies/mL) on a stable ARV regimen with no history of treatment failure and no known substitutions associated with resistance to the individual components of [dolutegravir/lamivudine]," ViiV stated.

Click here for full approval details.

4.) Does vitamin C among pregnant smokers improve airway function trajectory in offspring?

"Our findings provide evidence for a direct association between maternal smoking during pregnancy and wheeze occurrence," wrote the authors.

Click here for the full article.

5.) Does acetaminophen intake during pregnancy influence childrens risk of neurodevelopmental disorders?

A recently published study in JAMA sought to determine if there is a link between acetaminophen use during pregnancy and childrens risk of developing autism, ADHD, or intellectual disabilities.

Click here for the full article.

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Week in review: A new dermatology case study, and a new treatment for severe asthma - Contemporary Pediatrics

Cell Biology

Close Encounters of Skin and Nerve Cells – The Scientist

A tickly itch, a painful scratch, or the feeling of a refreshing breezethe skin is teaming with nerve endings that drive these sensations. Scientists are getting into the epidermis to explore how skin and nerve cells interact.

Peering through a microscope at skin tissue, researchers struggle to tease apart the intricate connections occurring inside tight bundles of skin and nerve cells.1 However, recent advances in microscopy have helped solve this intractable problem. Published in eLife, Nurcan eyler, a neurologist at the University of Wrzburg, and her colleagues used emerging imaging techniques to discover that nerve fibers not only weave around skin cells but also pass through them.2 The findings intimate a route by which skin cells transmit sensory signals to the nervous system.

The skin is basically the window to the outside, said Kathryn Albers, a neuroscientist at the University of Pittsburgh who was not involved with the work but reviewed the study. Despite this, scientists have long overlooked the role skin cells play in nerve stimulation. eyler hopes that their findings will open new doors for research. I think were at the beginning of changing minds, she said.

A chance discovery made by Christoph Erbacher, then a doctoral student in eylers laboratory, set the project in motion. He had started working on his PhD thesis on a completely different topic, eyler said. However, when Erbacher looked at skin tissue under the microscope, he noticed that nerve fibers did not just grow around skin cells but, to the whole teams surprise, tunneled straight through them. Eager to inspect these interactions in closer detail, the team turned to state-of-the-art imaging strategies that zoom deep inside cells to bring fine structures into view.

Continue reading below...

Structured illumination microscopy, a technique that takes multiple snapshots of a sample under different patterns of light, allowed eyler and her team to acquire super-resolution images of skin tissue. With the help of fluorescent antibodies that bind specifically to nerves, they located nerve tunnels passing through skin cells. Then, to capture the cells interior architecture, they used electron microscopy.3 The combination of the two strategies, called correlative light and electron microscopy (CLEM), allowed the researchers to see which architectural details corresponded to the fluorescently-stained nerve fibers.4

A single snapshot of a cell can only reveal so much. By imaging several layers in a sliver of tissue,the researchers could determine whether a nerve fiber tunneled through a cell rather than over or under it. They scrolled through cross-sections of the cell, starting at the base and moving up. All of a sudden, the fiber appears, and you can very clearly see youre in the middle of the cell, eyler said.

Examining the close-up architectural details afforded by CLEM, the researchers noticed that the tunneling fiber, as thin as one micrometer in width, did not puncture the skin cell membrane and poke into the cytoplasm, like a needle piercing through flesh. Rather, the membrane ensheathes the fiber, like rubber insulation around electrical wires.

Researchers captured nerve fibers (green) tunnelling through skin cells (magenta) using cutting-edge microscopy. Scale bar = 5m

Christoph Erbacher

With a detailed view of skin-nerve connections, the researchers explored whether proteins responsible for transmitting signals accumulate on these tunneling fibers. Using a flurry of fluorescent antibodies to search for such a protein, they found that connexin 43, a protein that normally participates in communication between skin cells, decorated the nerve fibers.5 Connexin 43 aggregates in a ring to generate pores in the cell membrane that allow entry of chemical signals such as calcium ions.6 eylers team also found that the calcium ion level spiked inside the cells when the nerve fibers tunneled through, which suggested that the two cell types communicate.

What started out as a chance observation may have implications for healthcare down the road. This skin-nerve cell link could inform research on nervous system disorders that affect the skin. For example, small fiber neuropathy causes a chronic, persistent burning pain on the skin, and eyler hopes that future studies will reveal whether nerve tunnels play a role in the condition.7 Currently, the few treatment options that exist target the nerves directly, but researchers may one day develop therapies that target the skin cells instead.

Before that can happen, scientists must first scratch deeper to unravel the biology of these nerve tunnels. Albers would like to know how these tunnels entwine with skin cells as they migrate from the base layer to the skin surface. She also wondered if nerve fibers tunnel into other cell types found in skin tissue, such as immune cells, and what that crosstalk between cell types might achieve.

No one tissue exists alone; everything communicates at some level, said Albers.

Continue reading below...

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Close Encounters of Skin and Nerve Cells - The Scientist

Cell Biology

Impact of aldehydes on DNA damage and aging – EurekAlert

image:

Histones are crosslinked with DNA (histone-DPC) following formaldehyde exposure, leading to the malfunction of cellular processes such as transcription.

Credit: Reiko Matsushita

A team of researchers at Nagoya University in Japan has discovered that aldehydes are metabolic byproducts associated with premature aging. Published in Nature Cell Biology, their findings reveal insights into premature aging diseases and potential strategies to combat aging in healthy individuals such as controlling exposure to aldehyde-inducing substances including alcohol, pollution, and smoke.

A person's health can be harmed by aldehydes. However, the groups findings suggest these detrimental effects also include aging. The team who made this discovery included Yasuyoshi Oka, Yuka Nakazawa, Mayuko Shimada, and Tomoo Ogi of Nagoya University.

DNA damage is linked with aging phenotypes, said Oka. However, for the first time, we propose a relationship between aldehyde-derived DNA damage and premature aging.

The researchers hypothesized that there might be a link between aldehydes and aging since individuals with premature aging disorders, like AMeD syndrome, exhibit inadequate activity of enzymes, like ALDH2, that break down aldehydes.

For healthy individuals, ALDH2 is also important in our response to alcohol. When a person drinks wine or beer, the liver metabolizes the alcohol into aldehydes so it can be eliminated from the body. The activity of ALDH2 is important for converting the aldehydes into a non-toxic substance.

Aldehydes are harmful because they are highly reactive with DNA and proteins. In the body, they form DNA-protein crosslinks (DPCs) that block important enzymes in typical cell proliferation and maintenance processes, causing these processes to malfunction and the patient to age.

Focusing on DPCs caused by aldehyde, the scientists used a method called DPC-seq to investigate the link between aldehyde accumulation and DNA damage in premature-aging disease patients. In a series of experiments, the researchers discovered that the TCR complex, VCP/p97, and the proteasome are involved in the removal of formaldehyde-induced DPCs in actively transcribed regions. This was confirmed by a mouse model lacking both aldehyde clearance processes and the TCR pathway that showed worse AMeD syndrome symptoms.

These processes are important because they are related to the clearance of aldehydes. It suggests an association between premature aging diseases and aldehyde accumulation.

Professor Ogi is hopeful about the implications of their findings, stating: "By elucidating the mechanism by which DNA damage heals quickly, we have revealed part of the cause of genetic premature aging.

Our research opens up new avenues for understanding the underlying mechanisms of premature aging diseases and offers potential targets for therapeutic intervention, Oka said. By elucidating the role of aldehydes in DNA damage and aging, we are paving the way for future studies aimed at developing novel treatments and interventions."

He continued: The development of therapeutic drugs has not progressed because we have not fully understood the causes of AMeD syndrome and Cockayne syndrome. This study suggests that the patient's pathological condition is related to DPC derived from aldehydes generated within cells. These results are expected to help in the search for compounds that remove aldehydes, thus aiding in the formulation of therapeutic drug candidates.

This research has implications that extend beyond genetic diseases, as their findings suggest that aldehyde-induced DNA damage may play a role in the aging process in healthy individuals too. By pinpointing aldehydes as substances that contribute to aging, this study sheds light on the intricate connection between environmental factors and cellular aging. This may have significant implications for human health and lifespan.

Nature Cell Biology

Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair

10-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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Impact of aldehydes on DNA damage and aging - EurekAlert

Cell Biology

OrthoID: Decoding Cellular Conversations with Cutting-Edge Technology – yTech

Summary: OrthoID is a novel strategy developed by an interdisciplinary research team to enhance our understanding of organelle communication within cells. It surmounts issues inherent in traditional methodologies and brings forth new levels of clarity to the study of cellular processes related to health and disease.

Within the realm of cellular biology, the nuanced dialogue between organelles like mitochondria and the endoplasmic reticulum (ER) is critical for maintaining cell health. Disruptions in this dialogue have implications in a host of diseases, making it imperative to understand it in detail. Innovatively engineered, OrthoID has been meticulously crafted to offer us deeper insights into organelle communication.

OrthoID differentiates itself from previous methods by using a synthetic binding pair in conjunction with the classic streptavidin-biotin system. This dual binding scheme unveils previously hidden facets of organelle interaction, enabling researchers to capture a broader array of mediator proteins. The technique has already borne fruit, uncovering novel proteins like LRC59 and illuminating their specific functions within the ER-mitochondria contact sites.

The flexibility of OrthoID is one of its many innovations, allowing scientists to customize their approach to studying various organelle interactions. This adaptability was emphasized by Professor Kimoon Kim of POSTECH, who noted the technologys modular nature that could extend beyond ER-mitochondrial studies. Meanwhile, Professor Kyeng Min Park from Daegu Catholic University School of Medicine highlighted its role as a versatile research instrument with promising applications in both understanding and treating diseases.

Overall, OrthoID is forging a path towards a transformative comprehension of cell mechanics, directly impacting future biomedical research and therapy development. The techniques unique perspective on the protein players in organelle communication is reshaping how scientists approach the intricate cellular landscape, bringing us one step closer to unraveling the mysteries of cellular life.

Industry Overview

The biotechnology and pharmaceutical industry is increasingly focusing on cellular biology as a fundamental aspect of understanding disease and developing new therapies. Organelle communication within cells is particularly pertinent to a range of conditions, including neurodegenerative diseases, cancer, and diabetes. The market for cell biology reagents and technologies is on a persistent growth trajectory, fueled by expanding research in cell and molecular biology. Market forecasts suggest that the global market for these technologies, driven by the need for more precise diagnostic tools and effective therapeutic options, is expected to experience significant growth over the next several years.

Market Forecasts

According to industry forecasts, one can expect the market for cell biology reagents and instruments to reach billions of dollars by the end of the decade. North America and Europe are leading this growth, with Asia-Pacific regions showing the highest growth rates due to increasing investments in biotechnology and healthcare infrastructure.

Industry Issues

Despite the anticipated growth, the industry faces several issues. High costs and technical complexities of advanced technologies can pose barriers to entry for smaller research institutions. Intellectual property rights, stringent regulatory frameworks, and ethical considerations surrounding biomedical research are additional challenges that impact industry dynamics. Furthermore, the reproducibility crisis in biological sciences, referring to the difficulty in replicating and validating research findings, underscores the need for reliable technologies like OrthoID.

OrthoIDs Role in the Industry

The development of OrthoID signifies a substantial advancement in the field. It provides a more discerning and versatile tool for the dissection of organelle communication pathways. As diseases often affect or are affected by cellular processes, mastering the intricacies of cell function with technologies like OrthoID can lead to the discovery of novel therapeutic targets. In the near future, this could facilitate the development of treatments that are more targeted and effective.

With continued research and development, medical scientists and researchers can leverage OrthoIDs detailed insights into organelle communication to overcome diseases that have remained enigmatic thus far. In the ever-evolving landscape of biotechnology, products such as OrthoID that provide novel means of understanding biological systems are invaluable.

For more information on the latest advancements and trends within the biotechnology industry, consider visiting reputable sources like the Nature Publishing Group or the World Health Organization (WHO), which can provide up-to-date news and comprehensive reports.

Micha Rogucki is a pioneering figure in the field of renewable energy, particularly known for his work on solar power innovations. His research and development efforts have significantly advanced solar panel efficiency and sustainability. Roguckis commitment to green energy solutions is also evident in his advocacy for integrating renewable sources into national power grids. His groundbreaking work not only contributes to the scientific community but also plays a crucial role in promoting environmental sustainability and energy independence. Roguckis influence extends beyond academia, impacting industry practices and public policy regarding renewable energy.

Link:
OrthoID: Decoding Cellular Conversations with Cutting-Edge Technology - yTech

Genetics

Introgression and disruption of migration routes have shaped the genetic integrity of wildebeest populations – Nature.com

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