Medical Bulletin 20/March/2023

Here are the top medical news for the day:

Preterm babies do not habituate to repeated pain

Heel lances can elicit substantial pain responses in infants, but it was not previously known whether this decreases on repeated lances.

Preterm infants do not get used to repeated pain in the way that full-term infants, children and adults do habituate to pain, finds a study led by UCL (University College London) researchers.

The authors of the new Current Biology paper say that if preterm infants have not yet developed the mechanism that enables people to get used to moderate pain, medical procedures in their first few weeks of life could potentially impact their development.

Reference:

A developmental shift in habituation to pain in human neonates,Current Biology,doi 10.1016/j.cub.2023.02.071

Macrophages key players in invasive breast cancers, shows study

Published in Nature Cancer, a study led by University of Pittsburgh School of Medicine scientists found that macrophages were the dominant immune cell infiltrating ER+ invasive lobular carcinoma (ILC) and invasive ductal carcinoma (IDC) tumors. Detailed spatial analysis of tumor regions also revealed distinct immune cell “neighborhoods” associated with good patient outcomes.

Most immunotherapies, which aim to boost T cell activity, work poorly in treating estrogen receptor-positive (ER+) breast cancer. Targeting a different type of immune cell called macrophages could be a more effective approach, suggests this study

Reference:

Immune landscape in invasive ductal and lobular breast cancer reveals a divergent macrophage-driven microenvironment',Nature Cancer,doi10.1038/s43018-023-00527-w.

Researchers identify genetic causes of three previously unexplained rare diseases

Rare diseases affect approximately 1 in 20 people, but only a minority of patients receive a genetic diagnosis. Fewer than half of the 10,000 recorded rare diseases have a known genetic cause.

Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness. The work was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; the University of Tokyo; the University of Maryland; Imperial College London, and others from around the world.

An enhanced understanding of the functions of the genes involved in these and other disorders could pave the way for the development of treatments. The findings were published in the March 16 online issue of Nature Medicine .

Reference:

Genetic association analysis of 77,539 genomes reveals rare disease etiologies,Nature Medicine,doi 10.1038/s41591-023-02211-z