Articles tagged with Congenital Disorders
Researchers discovered that 53% of newborns with myelomeningocele had sleep-disordered breathing, highlighting the need for routine screening and early intervention to prevent long-term complications. The study's findings suggest that addressing sleep disorders in high-risk infants could meaningfully improve their neurodevelopment.
A team of researchers from the University of Oldenburg has discovered a unique genetic pattern, or 'fingerprint', associated with NOTCH1 gene variants that commonly cause congenital heart defects. This breakthrough enables more reliable diagnoses and targeted therapies for patients and their families.
A recent study found that superagers' brains exhibit increased neurogenesis, with active production of new neurons. This 'resilience signature' is linked to superior memory formation and processing. The study's findings have implications for understanding healthy aging, cognitive resilience, and the prevention of Alzheimer's disease.
A new roadmap for newborn screening combines genetic sequencing with traditional biomarker-based testing to enhance early detection of treatable neonatal disorders. The framework covers 154 disease-associated genes across 67 inherited metabolic disorders, reducing false positives and false negatives while accelerating diagnosis and int...
A recent study found life expectancies for people with open spina bifida vary significantly by walking and feeding ability and bowel/bladder continence. Life expectancy decreases with age and is lower for males compared to females.
A University of Houston study challenges traditional views on dyslexia, suggesting it stems from an overall brain network vulnerability. The research identified two developmental origins: one related to brain architecture and another to synaptic signaling, which may be uniquely human.
Researchers analyzed cases in the STS Adult Cardiac Surgery Database to identify factors predicting postoperative risk. The study found that 16.7% of adults nationwide with CHD were considered high-risk for operative mortality and serious complications after redo cardiac surgery.
Researchers have developed a flexible, hair-like device that tracks vital signs of a fetus in real-time during surgery. This innovation provides continuous monitoring without invasive access, enabling faster interventions to prevent complications.
Alcohol screening increased from 61% to 81%, and intervention among positive screens rose from 22% to 67%. Practices improved documentation of pregnancy intention, using the AUDIT-C tool more frequently. This approach empowers local staff to lead care improvement efforts.
A preclinical study shows that cannabidiol restores emotional behavior, reduces alcohol-related vulnerability, and reverses gut microbiota alterations caused by prenatal alcohol exposure. Female mice particularly benefited from CBD treatment, which normalized their emotional alterations and eliminated vulnerability to alcohol addiction.
Researchers at the University of Houston have discovered a potential therapeutic strategy for counteracting muscle wasting in pancreatic cancer by blocking a specific cell pathway. Muscle wasting, also known as cachexia, is a debilitating syndrome affecting 60-85% of patients with pancreatic cancer.
A new study by Nagoya University researchers found that laparoscopic surgery significantly reduces blood loss and improves jaundice recovery compared to traditional open surgery for treating biliary atresia. The study analyzed data from 356 children who had surgery at two months old, tracking their outcomes for an average of 13 years.
The Gabriella Miller Kids First Data Resource Center has released its 37th study on extracranial germ cell tumors, a rare group of childhood cancers. The dataset comprises information from 393 children and young adults, including inherited genetic data and tumor-specific changes.
Researchers used CRISPR technology to identify HMGN1, a nuclear binding protein that contributes to trisomy 21-related CHDs. The study found that an overabundance of HMGN1 leads to abnormal heart development and gene expression.
A cohort study of mRNA COVID-19 vaccine exposure in the first trimester found no association with major congenital malformations. The study supports the safety of mRNA COVID-19 vaccines during early pregnancy.
The Variant Workbench enables researchers to explore genetic data in a single, integrated workspace, linking genomic information with clinical conditions. By reducing data complexity, the tool facilitates scientific discovery and accelerates pace of research.
Researchers at Stowers Institute for Medical Research have identified the precise location where human chromosomes break and recombine to form Robertsonian chromosomes. The study reveals that repetitive DNA sequences play a central role in genome organization and evolution, explaining how these rearrangements form and remain stable.
A new study confirms that testing for congenital CMV using the routine dried blood spot (DBS) method is a reliable and effective way to identify newborns at risk for long-term developmental challenges. The test detects over 90% of symptomatic CMV cases, effectively identifying babies in need of early interventions.
Congenital diaphragmatic hernia is a deadly malformation of the lungs and diaphragm that causes underdeveloped lungs, leading to high mortality rates. Researchers discovered increased numbers of inflammatory cells in human lung tissue, both before and after birth, which may influence lung structure development.
A University of Minnesota Medical School research team has launched a groundbreaking study on infants born with congenital cytomegalovirus (cCMV). The five-year, $3.3 million grant will track the development of 200 infants over three years to better understand the virus's impact on long-term health and inform medical providers' clinica...
The Gabriella Miller Kids First Pediatric Research Program has released its 36th study, introducing significant new data updates to two existing studies. These advances aim to uncover the genetic foundations of childhood cancers and congenital conditions. With over 110,000 data files available, researchers can explore publicly accessib...
USC Stem Cell scientists have developed a blueprint for generating specific kidney cell types on demand, holding immense value for preclinical studies of new therapeutics and congenital kidney diseases. The team successfully created lab-grown proximal tubule cells that can absorb sugar and protein, respond to chemotherapy drugs, and pr...
The study found that detection rates of congenital heart disease have improved due to advances in ultrasound screening practices, with added specific views helping detect more defects before birth. However, detection rates still vary by region and type of defect, highlighting the need for continued improvements in prenatal care.
Researchers are using nanodiamonds and VEGF to design treatments for Congenital Diaphragmatic Hernia (CDH), a devastating disease affecting 1 in 3,000 newborns. The treatment aims to stimulate lung growth before birth and improve survival rates.
A new study in the American Journal of Preventive Medicine found that two-thirds of women of reproductive age in the US have at least one modifiable risk factor for birth defects. The analysis highlights the need for improved preconception health and identifying and addressing these changeable risk factors before pregnancy.
A new study sampled different lung regions in cystic fibrosis patients before and after treatment with modulators, revealing that infections persisted throughout the lungs and drove inflammation. The findings suggest damage may not be the main cause of infection persistence, raising concerns about ongoing lung function deterioration.
Researchers discovered a previously unappreciated mechanism by which CMV infects cells lining blood vessels and contributes to vascular disease. The finding highlights a new potential avenue for developing antiviral drugs and suggests other herpes viruses could use similar molecular structures to evade immune detection.
Studies from North Carolina State University explored biomarkers and genetic markers for Chiari-like malformation in Cavalier King Charles spaniels, identifying Calcitonin Gene-Related Peptide as a potential therapeutic target. Elevated CGRP levels were found in dogs with CM and painful symptoms, but not correlated with syringomyelia.
The USPSTF recommends early, universal screening for syphilis infection during pregnancy to prevent congenital syphilis. Untreated syphilis can cause premature birth, low birth weight, and stillbirth in the fetus.
A study by Nagoya University Graduate School of Medicine found that school-age children with CDH performed worse in all tests except gait analyses, with impairments in limb muscle strength and endurance. Regular physical activity can help improve motor abilities, quality of life, and overall health for these children.
Adult patients with congenital heart disease have poor exercise capacity due to increased sedentary behavior. Increasing moderate-to-vigorous physical activity for 10 minutes daily can boost peak oxygen uptake by up to 0.454 mL/min/kg, suggesting a positive impact on prognosis and mobility.
Researchers at Penn State discovered that Zika virus builds tiny tunnels called tunneling nanotubes to transport material needed to infect nearby cells, including in placental cells. This allows the virus to cross the placental barrier without raising alarm in the immune system.
Researchers at TUM found that cystic fibrosis causes changes in the immune system as early as birth, leading to frequent inflammation and infections. These changes are not affected by CFTR modulator therapies.
A new study reveals that long-read sequencing can diagnose rare genetic diseases more accurately, quickly, and affordably. By analyzing longer stretches of DNA, this technology eliminates gaps and provides direct phasing data, improving the diagnostic yield of genetic sequencing.
Researchers from Osaka University found that Foxo3 mediates erroneous cell elimination during vertebrate development, ensuring precise development and cancer prevention. The study identified a specific pathway involving Foxo3, N-cadherin, and reactive oxygen species to eliminate unfit cells with abnormal Shh activity levels.
A new study in mice shows a unique mRNA delivery method can successfully edit faulty genes in fetal brain cells. The technology has the potential to stop progression of genetic-based neurodevelopmental conditions like Angelman syndrome and Rett syndrome before birth.
Infant mortality rates in the US increased significantly following the Dobbs decision, with no post-Dobbs months showing lower-than-expected rates. The findings are consistent with previous reports of increased infant mortality in Texas following its abortion ban.
Researchers created a single cell atlas of prenatal human skin, providing a molecular recipe for building skin. The study also led to the creation of a mini organ model that grows hair, offering insights into scarless skin repair and potential clinical applications in regenerative medicine.
A uterus transplant was successfully performed on women with absolute uterine-factor infertility, resulting in a high live birth rate. However, the procedure was also associated with significant medical and surgical risks for both recipients and donors.
A recent study found that 'gene misbehaviour' is a common phenomenon in the healthy human population, with over half of inactive genes showing misexpression. The researchers used advanced techniques to analyze blood samples from 4,568 healthy individuals and identified mechanisms behind these gene activity errors.
A large multicenter study has identified 34 new genetic diseases using genetic diagnostics, including a novel AI-powered analysis tool called GestaltMatcher. The study analyzed the genetic data of 1,577 patients and found changes in 370 different genes, with 425 children diagnosed with rare diseases.
Research on mouse models reveals that CBD and metformin can alleviate repetitive behaviour, impaired speech, and learning impairments associated with these genetic conditions. The study also explores the potential for broader use of these treatments in autism spectrum disorder-related conditions.
A new study found that Texas' 2021 ban on abortion in early pregnancy was associated with unexpected increases in infant and neonatal deaths in Texas between 2021 and 2022. Congenital anomalies also surged in Texas, but not elsewhere in the US.
The Kids First DRC has introduced an upgraded data portal to streamline big data search and analysis, improving collaborative pediatric research outcomes. The new portal integrates diverse datasets, including genomic information from the Children's Brain Tumor Network, to foster cross-disciplinary research.
A study of over 50,000 children with neurodevelopmental disorders reveals congenital abnormalities are at least ten times more common than in the general population. The analysis also maps medical consequences of new syndromes and offers opportunities for better guidance or treatment.
The study, published in Cell Stem Cell, improves the growth of nephron progenitor cells (NPCs) using a chemical cocktail, enabling sustained growth in a simple 2-dimensional format. The breakthrough has potential for advancing kidney research and discovering new treatments.
A recent study by Shinshu University researchers found that 1.62 per 1,000 live births have congenital deafness, with bilateral HL affecting 0.84% and unilateral HL affecting 0.77%. The main causes of these conditions were identified as hereditary factors and cochlear nerve deficiency.
A Zika vaccine candidate has been shown to be safe and effective when administered both before and during pregnancy, according to a new study. The purified, inactivated vaccine (ZPIV) candidate prevented placental damage and blocked transmission of Zika virus from mother to fetus.
An international team of scientists developed AI technology to analyze limited data on rare diseases. The method uses multi-layer networks to explore relationships between genes in patients, revealing genetic causes and severity. This breakthrough opens new avenues for treating rare diseases, including myasthenic-congenital syndromes.
A new study found that the link between paternal age and rare congenital disorders is more complex than previously thought. Researchers discovered that while older fathers are more likely to have children with certain bone and heart malformations, some genetic mutations associated with these conditions do not increase with paternal age.
Studies reveal how primates modify behaviors to care for themselves and others despite physical disabilities. Behavioral flexibility is crucial, allowing them to adjust species-typical behaviors and innovate new ways to participate in daily activities.
A new study by Anglia Ruskin University and University of Oxford highlights the lack of clinical research on severe sight impairment (SSI) among working-age individuals in the UK. The study finds that inherited retinal disorders, such as IRDs, are under-researched despite being a leading cause of SSI certifications in this population.
Researchers at the University of Texas Health Science Center discovered a gene therapy approach that can restore motor functions in mice with Contactin-Associated Protein 1 (Cntnap1) mutations. The study found that turning on the normal gene earlier improves the rescue outcome, and the next phase is to test this approach in humans.
Researchers at Tulane University discovered that prior exposure to Cytomegalovirus (CMV) significantly reduces the risk of birth defects and miscarriage during pregnancy. The study found that pre-existing immunity effectively limits transmission and protects against associated birth defects.
A new study reveals that flow-sensing cilia activate BICC1 to regulate organ laterality, with a complex network involving ANKS3 and ANKS6. The discovery provides fundamental insights into gene expression and opens avenues for therapies of genetic disorders.
A recent study found that gene panel sequencing as a first-tier screening test detected 2.7% of infants, with 50.4% diagnosed correctly. This alternative method identified undiagnosed cases in 1 out of every 500 newborns and showed promise for reducing false positives.
Researchers have developed a non-invasive technique using laser speckle imaging to visualize microvasculature in donor hearts and detect abnormal blood flow. The method enables precise visualization of blood circulation, potentially identifying hearts suitable for transplantation.
Researchers have developed a new technology to sequence individual mitochondria in single cells, allowing for unbiased analysis of full-length mtDNA. This has revealed complex patterns of pathogenic mtDNA mutations and the potential risks of off-target mutations in genetic editing strategies.
Researchers at TUM have developed a method to create mini-hearts in Petri dishes using stem cells. The resulting organoids mimic the earliest stages of human heart development and can be used to investigate congenital heart defects, potentially leading to new treatment methods.
Scientists have successfully corrected limb length in a mouse model of FZD2-associated autosomal dominant Robinow Syndrome, a genetic disorder that affects skeletal growth and development. The treatment involves using a drug that stimulates the signalling pathway, resulting in significantly longer limbs than untreated mice.