Articles tagged with Congenital Disorders
A major European study published in PLOS One found that children from disadvantaged backgrounds are more likely to die from congenital anomalies, with the risk increasing after infancy. The research highlights the influence of social and economic factors on health outcomes, particularly in countries with lower GDP per capita.
A new theory proposes that critical illness arises from loss of physiological coordination, not just organ failure. The Entropic Critical Illness Theory views living organisms as open systems with a continuous need to regulate entropy.
A phase 3 trial found that deramiocel, a heart-derived cellular therapy, slowed muscle weakening and preserved heart function in boys and young men with advanced Duchenne muscular dystrophy. The therapy also showed promise in reducing scarring in the heart.
Scientists have discovered a new approach to treating genetic brain disorders by redirecting brain development. The therapy helps at-risk neurons grow and connect more normally, strengthening connections among existing neurons and restoring cognitive function.
Researchers found subtle patterns in brain activity while children listened to speech linked to verbal communication abilities in autistic youths. Altered brain signals suggested the brain may process speech less efficiently, with noisier signals associated with lower scores on everyday verbal communication.
Researchers have identified a molecular signaling pathway that contributes to the development of life-threatening aortic aneurysms and dissections in Marfan syndrome. The findings suggest extracellular matrix changes trigger vascular dysfunction and point to potential therapeutic targets.
A University of Minnesota Medical School research team led by Dr. Mark Schleiss has received a $3.87 million NIH grant to investigate congenital CMV transmission during pregnancy. The study aims to develop preventive and therapeutic strategies to improve pregnancy outcomes and prevent lifelong disabilities in children.
Researchers describe a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The disorder presents with early onset respiratory distress, lung abnormalities, and developmental delay but no epilepsy.
A simple, seven-second X-ray scan can accurately detect the severity of pulmonary valve regurgitation in patients with repaired Tetralogy of Fallot. The test uses dynamic chest radiography and requires minimal radiation, offering a more accessible diagnostic option for those who cannot undergo traditional methods.
Researchers reconstructed the most detailed map of molecular machines that carried out life's functions in an ancient ancestor, revealing hundreds of new genes associated with human diseases. The study confirmed links between three rare disorders and identified potential targets for treating other diseases.
A major new study has found that severe asthma patients are often battling other health conditions, with nearly all suffering from at least one major issue. The study identified three distinct profiles linked to how well asthma is controlled and the treatments needed, offering potential breakthroughs for improving care.
Researchers at Kyushu University identified a molecular mechanism behind keel formation, revealing that a developmental
Research in Canadian Medical Association Journal found that babies born to mothers with endometriosis are at a higher risk of congenital anomalies. The study included over 1.4 million births and found an increased risk of cardiovascular, gastrointestinal, genital, and musculoskeletal anomalies as well as neoplasms and tumours.
Researchers developed RegVelo, an AI framework that models cellular dynamics and gene regulation to predict cellular fate decisions. The model traces developmental trajectories and simulates regulatory interactions, providing insights into hidden drivers of development and potential therapeutic targets.
Research in male sheep fetuses finds that excessive prenatal progesterone exposure alters the SRD5A1 gene, crucial for processing sex hormones in brain development. The study highlights the importance of hormones in fetal development and potential links to adult disease.
A large multiethnic study identifies genetic factors associated with developmental dysplasia of the hip (DDH) and its progression to osteoarthritis of the hip. Variations in COL11A2, CALN1, and TRPM7 genes were found to be common to both DDH and hip OA.
Researchers developed MitoCatch, a system that targets disease-affected cells with healthy mitochondria. The innovation enables efficient cell type-specific mitochondrial delivery, improving survival of damaged neurons in vitro and retinal ganglion cells in vivo.
A new study by POSTECH researchers found that the protein tau interacts with DNA during cell division, forming condensates that capture microtubules. This interaction affects chromosome alignment and can lead to cellular abnormalities even in healthy cells.
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.
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.
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.
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.
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.
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.
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.