Articles tagged with Congenital Disorders
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.
A team of researchers discovered that a mutation in the HMGB1 protein causes a rare disorder with severe malformations, suggesting a link between protein droplets and genetic disease. The study's findings could have implications for understanding congenital malformations, common diseases, and cancer.
The procedure requires thorough pre-procedural evaluation and assessment of anatomical and hemodynamic data. Long-term results indicate that TPVR can effectively restore RVOT function, while improving survival rates and reducing the need for reintervention across age groups. Vigilant testing is recommended to avoid rare but serious com...
Researchers found that administering nitric oxide to preterm mice after birth can reverse symptoms of congenital hypogonadotropic hypogonadism, including sensory and cognitive disorders. A clinical trial is now underway to test this treatment in human preterm infants.
Researchers at Brigham and Women's Hospital have developed a highly efficient method to generate human kidney cells, including principal and intercalated cell lines. This breakthrough could lead to new therapies for treating congenital abnormalities of the kidney and urinary tract, such as polycystic kidney disease.
A University of Ottawa-led team has developed an AI-based deep learning model to identify cystic hygroma, a rare and life-threatening disorder, from first-trimester ultrasound scans with high sensitivity and specificity. The approach may be applied to other fetal anomalies identified by ultrasonography.
Researchers investigate regulatory frameworks governing preimplantation genetic testing in Japan, the UK, and Western Australia. The study highlights the need for a multidisciplinary approach to evaluate disease severity and make informed decisions about treatment.
A study found that high blood adenosine levels at 15 days of life correlated with white matter lesions and brain injury in very low birth weight premature infants. Adenosine may play a role in oligodendrocyte maturation and neuronal development, suggesting its potential as a biomarker for complications of prematurity.
Researchers found that AI-enhanced diagnosis helps doctors accurately detect fetal congenital heart disease, with fellows making the most accurate diagnoses. The new system uses graphical charts to represent the AI's analysis of ultrasound videos, improving accuracy and trust among medical professionals.
Researchers at Clemson University have identified a genetic variation associated with congenital idiopathic megaesophagus (CIM) in German shepherd dogs, which is often fatal if left untreated. A genetic test using melanin-concentrating hormone receptor 2 and dog's sex can predict the risk of CIM with 75% accuracy.
Despite an overall decline in stillbirth rates across the UK, black and South Asian communities continue to experience higher rates of stillbirths compared to the rest of the population. Placental issues and birth defects are key causes of stillbirths in these groups, but the underlying cause remains unknown in more than half of cases.
A new study published in the New England Journal of Medicine found that babies born with Congenital Zika Syndrome are at an 11x greater risk of dying during their first three years of life compared to those born without. The study highlights the importance of protecting women, especially those pregnant or of child-bearing age, against ...
Researchers found that 30% of fetuses who later developed ASD had heart, kidney, and head anomalies detected during routine prenatal ultrasounds. These anomalies were more common in girls and linked to the severity of ASD. The study suggests that doctors can use these signs to evaluate the probability of a child being born with ASD.
A large study analyzed administrative health data from Ontario and found a low risk of major anomalies with tramadol and morphine, minor anomalies with codeine, hydromorphone, and oxycodone exposure. The study highlights the need to consider both the benefits and harms of opioid treatment during pregnancy.
A Texas A&M study found that prenatal exposure to alcohol in males can lead to increased frequency of fetal development issues, including placental inefficiency and growth restriction. The research suggests that male behavior and environmental factors play a role in shaping fetal development beyond just genetics.
A Zika virus vaccine candidate has been shown to prevent fetal malformations and detect maternal antibodies in pregnant animals. The vaccine has demonstrated high levels of protection against Zika infection in both mice and marmosets, with over 90% effectiveness observed.
A recent study published in the Journal of the American College of Cardiology found that fetal MRI can detect at least one other abnormality in almost 57% of fetuses with heart defects. Additionally, approximately a quarter of all fetuses had structural brain abnormalities, regardless of the severity of the heart defect.
Researchers identified the CIROP gene, crucial for establishing proper left-right asymmetry during embryonic development, which is linked to congenital heart defects and misplacement of internal organs. The study provides insights into the development of left-right patterning and has implications for research on potential therapies.
Scientists have identified a mechanism contributing to the tissue phenotypes of PMM2-CDG, a congenital disorder of glycosylation. Using a zebrafish model, researchers found that defects in N-cadherin processing lead to craniofacial and motility abnormalities.
Scientists have developed a Japanese rice fish model to study congenital disorders of glycosylation, including ALG2-CDG. The model replicates symptoms such as neuronal problems and retinitis pigmentosa, and demonstrates that supplying fully-functional Alg2 can prevent defects.
A novel taxonomic classification of rare congenital diseases with an impact on bone physiology has been established. The classification system groups disorders according to systemic disease, genetic defect, pathophysiology of bone phenotype, and therapy, providing a framework for diagnosis and treatment.
Scientists have identified a key mechanism in X chromosome inactivation that may lead to treatments for rare congenital disorders and certain cancers. By understanding how this mechanism works, researchers hope to develop novel medicines for diseases like Rett syndrome.
Scientists have created a size-adjustable prosthetic heart valve that can be expanded to accommodate growing hearts, reducing the need for invasive surgeries. The device showed good performance in animal studies without impeding blood flow, but longer-term tests are needed to validate its durability.
Mortality rates among children and adolescents (birth to age 20) decreased globally between 1990 and 2017 due to declines in infectious diseases. However, years lived with disability (YLDs) rose, primarily caused by iron-deficient anemia, vitamin A deficiency, and mental health disorders.
Researchers at Karolinska Institutet have discovered a new skeletal disease linked to an abnormal expression of small RNA molecules. The study reveals that the disease causes skeletal dysplasia, joint pain, and delayed cartilage cell maturation in patients, providing potential diagnostic and therapeutic options.
A new Tel Aviv University study uses genetically manipulated yeast cells to mimic the pathology and symptoms of congenital metabolic diseases. The innovative platform will allow scientists to screen thousands of drug-like small molecules to identify potential therapies for these devastating diseases.
Scientists have performed prenatal gene editing to prevent a lethal metabolic disorder in laboratory animals, offering the potential to treat human congenital diseases before birth. Using CRISPR-Cas9 and base editor 3, researchers reduced cholesterol levels and improved liver function in mice treated in utero.
Scientists have performed prenatal gene editing in laboratory animals to prevent a lethal metabolic disorder, offering the potential to treat human congenital diseases before birth. Using CRISPR-Cas9 and base editor 3, researchers reduced cholesterol levels and improved liver function in mice with genetic mutations.
A study by researchers at the Instituto Gulbenkian de Ciencia found that the Spindle Assembly Checkpoint, a mechanism that regulates cell division, can sometimes be counterproductive. This checkpoint can increase genetic errors when cells have irreparable problems with chromosome cohesion.
Researchers identified epigenetic mutations as significant contributors to neurodevelopmental disorders and congenital anomalies. The discovery could lead to advanced diagnostic tools, say researchers from the Icahn School of Medicine at Mount Sinai.
Researchers have identified genetic factors that cause congenital myotonic dystrophy, a debilitating muscle disorder. They developed specialized mouse models to test potential drug therapies and found severe RNA misprocessing as a major cause of the disease.
Researchers have identified the genetic mutation MYMK as the cause of CFZS syndrome, a rare muscle disorder characterized by facial weakness and scoliosis. The discovery opens new avenues for diagnosis, treatment, and therapy development, including the use of CRISPR-Cas9 technology.
Researchers at IRB Barcelona identify a fundamental role of JAK/STAT signalling pathway in regulating limb development and growth. The study reveals three key functions of JAK/STAT in specifying wing formation and growth, with implications for understanding human congenital diseases.
Thyroid disorders in children can be diagnosed and treated early with regular screening and communication between primary care physicians and specialists. The article highlights the importance of understanding risk factors, clinical signs, and symptoms to optimize outcomes for patients with these conditions.
A record number of 40,829 hematopoietic stem cell transplantations (HSCT) were performed globally in 2014, with 36,469 patients treated. This represents a continued increase in HSCT rates, both allogeneic and autologous, over the past two decades.
A new classification of coronary congenital diseases aids in identifying secondary defects, which can severely affect cardiovascular health. The scheme helps clinicians diagnose anomalies and prevent future complications, particularly sudden death and myocardial infarction in children and competitive athletes.
A new study has identified numerous genetic mutations associated with both congenital heart disease and neurodevelopmental disorders. The analysis revealed a high burden of damaging de novo mutations in genes highly expressed during heart development, suggesting a link between heart and brain development.
A genetic mutation has been identified as the cause of congenital sucrose-isomaltase deficiency (CSID), a disorder that prevents the absorption of sucrose in Inuit people. The study found that CSID is more common in Inuit individuals living in northern Canada and Greenland.
A study found that maternal obesity increases the risk of congenital abnormalities of the kidney and urinary tract in children. Being overweight was not linked with an increased risk. The research highlights the importance of addressing obesity as a public health concern.
Researchers evaluated potential age-promoting compounds using a novel mouse model, finding that UV light exposure and cigarette smoke increased p16INK4 expression, while a high-fat diet did not accelerate this process. This study demonstrates the utility of the p16LUC mouse model for evaluating age-promoting agents.
Researchers identified a chromosomal deletion in the CFHR gene cluster, resulting in production of a hybrid CFHR2/CFRH5 that stabilized C3 convertase. Treatment with soluble C1 restored C3 convertase decay and may be a promising treatment option for patients with refractory dense deposit disease.
Researchers identified a family with two of three children affected by CDD, both carrying a rare DGAT1 gene mutation. The study suggests targeting DGAT1 could cause severe diarrheal disorder in individuals with the mutation.
Researchers used next-generation sequencing to identify genetic causes of developmental delays and congenital abnormalities in seven out of twelve patients. The study found that the technology can provide a diagnosis about half of the time, motivating its use for patients with unknown genetic conditions.
Researchers discovered a gene responsible for congenital mirror movements disease, which affects motor skills and hand movement coordination. The RAD51 gene is involved in the transmission of brain signals between the left and right sides of the body.
A rare subset of diseases affecting the lymphatic system, including lymphangiomatosis and Gorham's disease, are focused on in a special issue of Lymphatic Research and Biology. The articles shed light on current knowledge, ongoing research, and key differences from other lymphatic disorders.
Researchers have developed a mouse model that can treat a severe congenital disorder by supplementing pregnant mice with mannose, increasing the production of essential sugar chains. This breakthrough may offer a new therapeutic approach for children with CDG-Ia, who currently have no treatment options.
Researchers at The Donald Danforth Plant Science Center have discovered that green tea polyphenols can control a deadly congenital disease by hijacking the ADP activation site. This finding has also been validated in two types of tumors, glioblastomas and tuberous sclerosis complex disorder, suggesting potential for drug development.
A cohort study found that male cancer survivors had a 17% increased relative risk of major congenital malformations in their offspring, which was not significantly affected by assisted reproductive technologies (ARTs) or specific cancer treatments.
A new research paper proposes a six-step decision-making approach to facilitate shared decision-making between parents and physicians for infants born with genetic or anatomical anomalies in sexual development. The process aims to clarify reasons, identify gaps in understanding, and explore values underlying decisions. By working on th...