"Two-factor" screening of newborns enhances congenital hearing loss management

Study involving 119,606 newborns shows concurrent hearing and high-throughput genetic screening is more effective

2023-10-12

(Press-News.org) Nearly 30 million Chinese individuals experience hearing loss (HL), with around 60% of these cases being hereditary. HL is the second most common congenital disability in China, with an estimated 30,000 babies in China born with HL each year and face the challenges of medical expenses and education-related issues.

To understand if concurrent hearing screening and high-throughput genetic screening could improve the effectiveness of newborn HL programs, a new study by Minghong Zhao, Xuemei Luo, Qinfei Zhao, Tong Yang, Wenqian Zhang (BGI Genomics, Senior Manager Clinical Research) et al. was published in the International Journal of Pediatric Otorhinolaryngology.

Method and Findings:

In total, 119,606 newborns from Gannan, Jiangxi province, China, were enrolled in this multi-center study conducted between April 2019 and April 2021. Otoacoustic Emission (OAE) was used for primary hearing screening three days after birth in quiet conditions, and OAE combined with automated auditory brainstem response (AABR) was applied 29–42 days after birth for those who failed or missed the initial screening. Meanwhile, high-throughput sequencing of hotspot HL-associated mutations in GJB2, GJB3, MTRNR1, and SLC26A4 genes were performed.

OAE and AABR are commonly used HL screening methods. OAE is not sufficiently sensitive for detecting posterior cochlear hearing impairment, while AABR is cumbersome and expensive. Neither method can detect or predict delayed or progressive HL in individuals with normal hearing at birth.

Key findings include:

1. Among the 119,606 newborns, 7,796 (6.52%) failed the hearing screening. Genetic screening revealed that 5,092 neonates (4.26%) carried HL-associated mutations, and. among them, 4,612 passed the physiologic screening.

2. The detection rate of GJB2, SLC26A4, MTRNR1 and GJB3 mutations were 2.09%, 1.51%, 0.42% and 0.24%, respectively. The most prevalent variant was GJB2 c.235delC (1.74%). The second most prevalent variant was SLC26A4 c.919-2A > G (0.93%).

3. SLC26A4 gene mutations are common causes of syndromic and non-syndromic hearing loss. The population who failed the hearing screening had a lower proportion (24.64%) of SLC26A4 gene variants compared to the population who passed (37.46%). This suggests that identifying the patients related with SLC26A4 gene mutations solely based on hearing screening may pose a greater challenging, potentially increasing the risk of misdiagnosis.

The results of this study suggest that concurrent hearing screening and high-throughput genetic screening would greatly improve the effectiveness of newborn HL programs. This integration also facilitates the management of congenital HL, and aids in the prevention of aminoglycoside antibiotics-induced HL.

However, it is important to acknowledge this study only involved neonates from Gannan. This round of concurrent screening also considered 21 hot spots of mutations in common deafness-related genes, leaving other potential mutation sites unexplored. Future research could encompass broader parameters to address these limitations.

This project follows relevant regulations related to biological and medical research and has been approved by the Ethics Committee of the participating institutions and the Human Genetic Resources Administration of China

END

ELSE PRESS RELEASES FROM THIS DATE:

Astronomy: One small step towards lunar roads

2023-10-12

It may be possible to create paved roads and landing pads on the Moon by using lasers to melt lunar soil into a more solid, layered substance, reports a proof-of-concept study in Scientific Reports. Although these experiments were carried out on Earth using a substitute for lunar dust, these findings demonstrate the viability of the technique and suggest it could be replicated on the Moon. However, further work may be needed to refine the process, according to the authors. Moon dust poses a significant challenge to lunar rovers as, due to the low levels of gravity, ...

AI just got 100-fold more energy efficient

2023-10-12

AI is so energy hungry that most data analysis must be performed in the cloud New energy-efficient device enables AI tasks to be performed within wearables This allows real-time analysis and diagnostics for faster medical interventions Researchers tested the device by classifying 10,000 electrocardiogram samples The device successfully identified six types of heart beats with 95% accuracy EVANSTON, Ill. — Forget the cloud. Northwestern University engineers have developed a new nanoelectronic device that can perform accurate machine-learning classification tasks in the most energy-efficient ...

Around the globe, climate adaptation lacks coordination

2023-10-12

Viewed globally, it is above all individuals and households that are pursuing adaptation to the impacts of climate change; systematic networking of the various groups affected is lacking. This is the conclusion reached by an international team of experts from Universität Hamburg’s Cluster of Excellence for climate research (CLICCS) and Ludwig-Maximilians-Universität München (LMU). Their meta-study was just released in the journal Nature Climate Change. For their meta-study, the 30 authors analyzed more than 1,400 academic studies on climate change adaptation. By doing so, they offer the first global overview of which groups of actors are pursuing adaptation – and ...

Red blood cell transfusion in the ICU

2023-10-12

About The Study: Red blood cell (RBC) transfusion was common in patients admitted to 233 intensive care units in 30 countries between 2019 and 2022, with high variability across centers in transfusion practices. Although many different clinical reasons and triggers were stated for RBC transfusion, the three most common reasons (low hemoglobin level, active bleeding, hemodynamic instability) and triggers (hypotension, tachycardia, no physiological trigger affected the decision to transfuse) were largely overlapping in all regions. Authors: Alexander P. J. Vlaar, M.D., Ph.D., M.B.A., of Amsterdam University Medical ...

Small-volume blood collection tubes to reduce transfusions in intensive care

2023-10-12

About The Study: This randomized trial in 25 adult medical-surgical intensive care units (ICUs) in Canada found that the transition from standard-volume to small-volume tubes for blood collection in the ICU may reduce red blood cell transfusion without impacting biospecimen sufficiency for laboratory analysis. Authors: Deborah M. Siegal, M.D., M.Sc., of McMaster University in Hamilton, Ontario, Canada, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jama.2023.20820) Editor’s Note: Please see the article for ...

The burden of lung cancer in women compared with men in the US

2023-10-12

About The Study: Based on high-quality population-based data, this study found that the higher lung cancer incidence in women than in men has not only continued in individuals younger than 50 years but also now extends to middle-aged adults as younger women with a high risk of the disease enter older age. Reasons for this shift are unclear because the prevalence and intensity of smoking are not higher in younger women compared with men except for a slightly elevated prevalence among those born in the 1960s. Authors: Ahmedin Jemal, D.V.M., Ph.D., of the American Cancer Society in Atlanta, is the corresponding author. To access the embargoed study: ...

Race and ethnicity and primary language in emergency department triage

2023-10-12

About The Study: In this study of 249,000 visits to seven academic and community hospital emergency departments, patients who identified as Black, Hispanic, and Other race and ethnicity were assigned less acute Emergency Severity Index scores than their white peers despite having received more involved physician workups, suggesting some degree of mistriage. Clinical decision support systems might reduce these disparities but would require careful calibration to avoid replicating bias. Authors: Joshua W. Joseph, M.D., M.S., ...

Big blood savings: large trial in JAMA shows taking less blood for lab testing reduces transfusions in intensive care

2023-10-12

A world-first clinical trial published in JAMA could provide an easy way to save tens of thousands of units of blood every year in Canada and much more worldwide. The trial, which involved more than 27,000 patients in 25 adult intensive care units (ICUs) across Canada, showed that taking less blood for lab tests using “small-volume” tubes reduced the need for almost one blood transfusion for every 10 patients. Most hospitals use standard tubes that automatically draw four to six milliliters (ml) of blood, but a typical laboratory test requires less than 0.5 ml of blood, meaning the rest (more ...

We can respond to verbal stimuli while sleeping

2023-10-12

Sleep is generally defined as a period during which the body and mind are at rest—as if disconnected from the world. However, a new study led by Delphine Oudiette, Isabelle Arnulf, and Lionel Naccache at Paris Brain Institute shows that the frontier between wakefulness and sleep is much more porous than it seems. The researchers have shown that ordinary sleepers can pick up verbal information transmitted by a human voice and respond to it by contracting their facial muscles. This astonishing ability occurs intermittently during almost all stages of sleep—like windows of connection with the outside world were temporarily opened on this occasion. These new findings ...

Flagship individuals can boost conservation

2023-10-12

“Flagship” individual animals like Cecil the lion or Freya the walrus can boost conservation, new research suggests. Much-loved species like pandas and polar bears are widely used in conservation campaigns. However, a new study argues that individual animals or plants can also be used as flagships, with enormous potential to raise awareness and mobilise public support. The recent outcry over the felling of the “Sycamore Gap” tree in the UK demonstrates the power of individual plants or animals in public opinion. “Flagship individuals typically share some common characteristics,” ...