Rare genetic syndrome affects male and female brains in distinct ways
Researchers at Tel Aviv University, led by Prof. Illana Gozes, examined the effects of different mutations in the ADNP protein, which is essential for normal brain development and aging, on the brain ...
'Like lightning striking twice' | Siblings share same rare congenital heart defect
Leyla and Noah Ellis share more than just a last name. The matching scars on their chests show how open heart surgery saved their lives.
Science Daily4d
What causes reproductive complications?
Our cells constantly receive DNA damage from factors such as ultraviolet rays, irradiations, toxins and chemicals. For women, that can lead to poor egg quality, which in turn can cause infertility, ...
Boosting autophagy in eggs may reduce DNA damage and reproductive complications
Our cells constantly receive DNA damage from factors such as ultraviolet rays, irradiations, toxins and chemicals. For women, ...
Baby born with cloudy eyes is one of just 23 in world with rare genetic disease
The mum and dad of a baby with a genetic disease so rare it has no name have vowed to keep fighting for him after the ...
Nature15d
Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease
These findings highlight the need for high-resolution genetic screening in children with CHD and additional birth defects, even if they have had a normal karyotype. Our results indicate that a ...
CNN-News1815d
Birth Defects And Late Parenthood: Risks and Prevention Tips
The process involves discussion on the history of family illness, birth rate and options for gene ... to select embryos with the correct number of chromosomes for problems like chromosomal ...
jmg.bmj16d
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
1 Pediatric Department A', Ha'Emek Medical Center, Afula, Israel 2 Genetic Institute, Ha'Emek Medical Center ... He was born vaginally at 37 +5 weeks. Birth weight was 2348 g (2nd centile), and Apgar ...
BMJ16d
Non-cardiac birth defects and long-term risk of cardiovascular hospitalisation
inspq.qc.ca Background Patients with heart defects are at risk of developing cardiovascular disease. Our objective was to determine if non-cardiac birth defects are associated with the risk of ...
Live Science19d
Infant mortality is on the rise in the US — experts point to stricter abortion laws as reasons why
Birth defects affect 3% of pregnancies in the U.S. They can be caused by exposures to certain medications, infections, maternal diseases or genetics. For many, causes are unknown. While birth ...
verywellhealth19d
Is Diabetes Genetic?
Genetic testing can be used to identify certain forms of diabetes that are monogenic, meaning that they are related to a change or defect in a single gene. Both neonatal diabetes and MODY are ...
The Conversation19d
Stricter abortion laws may cause increased infant deaths − 2 maternal and child health researchers explain the data
Birth defects affect 3% of pregnancies in the U.S. They can be caused by exposures to certain medications, infections, maternal diseases or genetics. For many, causes are unknown. While birth ...