Articles tagged with Birth Defects
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Researchers at Queen's University have identified genes affected by methotrexate (MTX), a cancer-fighting drug that causes birth defects in children. The study uses fruit flies as a model system to understand the effects of MTX on mammalian birth defects.
A survey of pregnant women taking isotretinoin found that many failed to comply with key requirements for preventing birth defects. The study's results highlight the need for improved pregnancy prevention programs to prevent isotretinoin-related birth defects.
Scientists with the UF Genetics Institute found that eliminating microRNAs from specific tissues can reveal their vital role in healthy development. The technique may provide insight into human birth defects and has potential applications in studying the function and malfunction of microRNAs, a crucial part of human gene expression.
Gene targeting allows researchers to design and produce knockout lab mice to study human disease, revolutionizing biomedical research and advancing genetic medicine. The award recognizes the breakthrough technology developed by Capecchi and Smithies, enabling scientists to address complex biological problems.
A study on lamotrigine found a 2.9% risk of birth defects, similar to the general population, while valproic acid had a 12.5% risk when used with other epilepsy drugs. Researchers emphasize the importance of controlling seizures and planning carefully to minimize risks during pregnancy.
Researchers at the University of Manchester are exploring the role of p63 in cleft palate development. By investigating how this protein works during normal development and how it is disrupted in cleft palate, the study aims to improve understanding of the condition and potential therapies.
The NIH awards $1 million for research on Diamond Blackfan anemia, a genetic blood disorder linked to increased risk of adult cancers and birth defects. Researchers will broaden the DBA Registry of North America to gain insight into cancer susceptibility and develop new approaches for examining the origins of this disease.
A new gene test can predict a child's risk of having an isolated cleft lip and palate, allowing parents to make informed decisions about future pregnancies. The test, based on distinct mutations in the IRF6 gene, has been shown to be effective in predicting the birth defect with approximately 12% accuracy.
A new study has identified a gene variant linked to cleft lip and palate, with implications for genetic counseling and treatment options. The discovery brings us closer to understanding the multiple genetic factors underlying these serious birth defects.
Researchers have developed a new gene test that can identify the risk of isolated cleft lip and palate in 12% of cases, opening up new possibilities for families affected. The test detects specific sequence variations associated with an increased chance of a child being born with a cleft.
Dr. Lyon's 1961 discovery of X-chromosome inactivation explained the inheritance pattern of X-linked disorders such as hemophilia and fragile X syndrome. The study of X-inactivation continues to excite researchers today, with a focus on understanding the process.
A team of researchers discovered a specific genetic mutation, Tbx10, responsible for causing cleft lip and palate in mice. This finding suggests that similar mutations may exist in humans, shedding light on the complex development of facial features.
Researchers found that mice embryos lacking the ATM gene were more susceptible to DNA damage and birth defects when exposed to ionizing radiation. The study suggests that the ATM gene protects embryos from oxidative stress, and its absence may lead to increased risk of birth defects in humans.
A new study published in the Journal of Perinatology reveals a growing incidence of gastroschisis in the U.S., particularly among mothers under 20 years old. Gastroschisis is a birth defect where the intestines develop outside the womb, and its mortality rate ranges from 3-8 percent.
A study at Johns Hopkins Medicine found that IVF births are associated with a higher incidence of exstrophy-epispadias complex, a rare birth defect affecting the bladder, pelvic bones, and genitals. Researchers estimate the risk is up to 7.3 times more common in IVF children compared to the general population.
A gene involved in forming blood vessels has been identified as a key player in DiGeorge syndrome, a chromosomal abnormality causing devastating birth defects. The study found that abnormalities in VEGF lead to the syndrome, which affects the heart, thymus, parathyroid gland, and mental retardation.
Researchers have found a possible association between IVF and an increased risk of Beckwith-Wiedemann syndrome (BWS), a genetic disorder that can predispose children to cancer. BWS is characterized by excessive growth and occurs in about 1 in 15,000 births, with the incidence being significantly higher among IVF-conceived babies.
Researchers studied over 1000 pregnant women from diverse countries and found no significant link between optimal timing of conception and lower birth defect rates. The findings are reassuring for natural family planning users and those with infrequent or sporadic sexual activity.
Researchers found a significant link between exposure to high levels of ozone and carbon monoxide during the second month of pregnancy and an increased risk of conotruncal heart defects. The study analyzed data from over 9,000 babies born in Los Angeles and found that women exposed to elevated pollution levels were three times as likel...
Researchers have found that thalidomide can help patients with myelodysplastic syndrome, a group of disorders affecting the bone marrow and leading to acute myeloid leukemia. The study showed a 20% response rate among patients treated with thalidomide, with some achieving transfusion independence.
Researchers at UIC College of Medicine are developing a powerful new prenatal diagnostic technique to detect genetic abnormalities in fetal blood cells. The technique, using fluorescent in-situ hybridization (FISH), will identify defects in individual genes and could potentially be used by all women who wish to undergo screening.
Researchers at UC Davis discovered that multiple protein-based motors work together to build the spindle and move chromosomes during cell division. This new understanding of cellular machines could help prevent or treat disorders related to cell-division defects.
The University of North Carolina at Chapel Hill's Center for Alcohol Studies is developing an educational program to educate middle-school students about the dangers of maternal alcohol abuse and its effects on unborn babies. The program aims to raise awareness among children and help them make informed decisions about drinking and sex...
Researchers discovered that low nitric oxide levels in mouse newborns with hypoplastic lungs hinder the proper development of blood vessels, leading to persistent pulmonary hypertension and respiratory distress. The study aims to identify genes affecting lung development and function.
A new study by Michigan Medicine researchers found that women who smoke during pregnancy are 50-70% more likely to give birth to a baby with cleft lip or palate. The risk increases with the number of cigarettes smoked daily, even after controlling for factors like mother's race, age, and education level.
Researchers found that a brief deprivation of vitamin A in developing chicken embryos can generate severe craniofacial deformities, which could be reversed with targeted protein treatments. The study suggests that carefully timed protein therapies in human fetuses might repair cleft palate and other birth defects.
A recent study published in the New England Journal of Medicine found that genetic testing and dietary modification can save the lives of children born with a defect in fatty acid breakdown. The research team identified 24 infants with liver, heart, or muscular abnormalities and found that dietary treatment was crucial for survival.
A study published in The New England Journal of Medicine found that women with birth defects are at a small risk of having children with birth defects, with only 4% of affected offspring. The majority of women with birth defects will have healthy, unaffected babies.
A new study found that women with birth defects are less likely to survive and have fewer children than those without them. However, their children face a higher risk of developing similar birth defects.
Patients with atrial septal defects can benefit from surgical closure earlier in life to prevent future symptoms, according to researchers. The study found that surgery between ages 16 and 80 can restore normal blood circulation and prevent arrhythmia.
Scientists isolate UFD1 gene, linked to cardiac and facial anomalies in children with 22q11 deletion syndrome, a condition affecting one in 4,000 births. The study suggests that dysregulation of this gene leads to the development of heart and craniofacial structures.
Researchers use fully quantum-mechanical simulations to study proton diffusion in acids, finding that the proton migrates by interconverting hydrogen bonds into strong covalent bonds. Quantum tunneling is not involved, and the defect's delocalization is induced by zero-point motion of excess protons.
The significance of defects in semiconductors cannot be overstated, as they determine many crystal qualities and enable the creation of useful variability. The controlled substitution of host atoms by foreign atoms is a key idea in semiconductor materials engineering.
Researchers at Duke University Medical Center have shown that a new type of gene therapy can correct the defect in human blood cells, potentially providing a treatment for sickle cell anemia. The therapy uses ribozymes to edit defective RNA and could lead to a significant reduction in disease symptoms.
A lifestyle profile with low folate intakes, smoking, and high coffee consumption is associated with high plasma homocysteine levels. Folate intake, smoking status, and coffee consumption are major determinants of plasma homocysteine concentration in the general population.