Medical Bulletin 19/February/2024

Here are the top medical news highlights for the day:

Genetic sequencing crucial for diagnosing growth disorders, study finds

In an article published in the Journal of Pediatrics, researchers have described the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.

The team used exome sequencing, in which only the protein-coding portion of the genome is analyzed, to look for genetic mutations, and found them in GCK and BCL11B. As a result, the diagnosis was monogenic diabetes and T-cell abnormality syndrome, both of which are rare diseases. Identification of the exact cause of the problem and the discovery of a blood sugar alteration significantly influenced their choice of treatment.

For the study, researchers sequenced the exomes of 115 patients with syndromic growth disorders that had hitherto unknown causes, diagnosing 63 on the basis of the genetic analysis; 9.5% of these had a multiple diagnosis, far more than in previous studies.

Reference: DOI:10.1016/j.jpeds.2023.113841

Memory also involves brain waves

A research group led by Prof. Lukas Kunz, research group leader for Cognitive and Translational Neuroscience at the Clinic and Polyclinic for Epileptology at the University Hospital Bonn (UKB), explains that spatial navigation and spatial memory are crucial in our daily lives. Without these abilities, it would be challenging to navigate our surroundings and recall past events.

The study published in the journal Nature Neuroscience, states that different types of nerve cells become active together during spatial memory and are coordinated by brain waves ("ripples").

Reference: DOI: 10.1038/s41593-023-01550-x

Study reveals antidepressants' effect on fetal brain development in pregnancy

A new study published in Nature Communications provides direct evidence that antidepressant use during pregnancy can impact a child’s brain development and contribute to the risk of mental health disorders later in life.

The study, led by researchers at the University of Colorado Anschutz Medical Campus, focused on the effect of fluoxetine, commonly used in medications such as Prozac and Sarafem for treating depression and perinatal depression, on a developing prefrontal cortex.

Since fluoxetine works by increasing the levels of serotonin in the brain, the researchers looked at the impact serotonin has on prefrontal cortex development in a fetus.

Reference: DOI: 10.1038/s41467-024-45734-w