Medical Bulletin 5/April/2023

Here are the top medical news for the day:

Narrow opportunity to address a rare disease linked to autism, schizophrenia identified

In DiGeorge syndrome, the mitochondria are oxygen-starved and lack the energy to make necessary connections. The reason for this disruption can be traced to several genes in the region of chromosome 22, which is deleted in DiGeorge syndrome. The imbalance of having only half of the required amount of these genes, the proteins they encode, and the support for mitochondria they provide, underlies a failure to make sufficient numbers of connections during brain development, and a dysfunctional system.

The human brain begins to assemble itself shortly after conception as a growing number of brain cells connect to create circuits across the brain.

Genes provide the blueprint for construction, but occasionally the blueprint is incomplete, connections aren’t made, and circuits fail – sometimes long before the problem can be recognized, let alone fixed.


Anthony-Samuel LaMantia et al,VIRGINIA TECH

Researchers show how two different types of immune cells help two billion people keep tuberculosis in check

The key feature of tuberculosis infection in humans is the formation of granulomas, or clusters of immune cells in the lungs that contain the infection. These granulomas contain B cells, all-purpose immune cells that perform a variety of functions, from producing antibodies to regulating the activity of other cells. For years, researchers assumed that these B cells must be performing a specific direct function in the granulomas to control TB infection, but in a new study, scientists from the University of Chicago and Washington University in St. Louis show that these B cells are actually directing reinforcements to help.

More than 10 million people are sickened by tuberculosis (TB) globally each year, resulting in 1.5 million deaths. Yet, as many as two billion people are infected with Mycobaterium tuberculosis, the bacterium that causes tuberculosis, and are otherwise healthy and asymptomatic. Scientists who study TB look at those individuals who can tolerate and contain the infection in hopes of developing better treatments and vaccines.


Antigen-specific B cells direct T follicular- like helper cells into lymphoid follicles to mediate Mycobacterium tuberculosis control,Nature Immunology,doi 10.1038/s41590-023-01476-3

Lorlatinib is safe and effective for patients with ALK-driven relapsed/refractory high-risk neuroblastoma, research shows

Neuroblastoma is an aggressive pediatric cancer that develops from early nerve cells, often appearing as a solid tumor in the chest or abdomen. The disease accounts for up to 10% of childhood cancer deaths, and survival rates are low – less than 50% of patients with the disease survive, and there is still no known curative therapy for patients who suffer a relapse, despite recent improvements in our understanding of this disease and the development of new treatment options.

In a significant step for the treatment of neuroblastoma, an international group of researchers led by Children’s Hospital of Philadelphia (CHOP), Winship Cancer Institute of Emory University and the New Approaches to Neuroblastoma Therapy (NANT) Consortium has shown that the targeted therapy lorlatinib is safe and effective in treating high-risk neuroblastoma. The findings, published today in Nature Medicine, have led to a major amendment in a phase 3 Children’s Oncology Group (COG) clinical trial, which has incorporated lorlatinib for newly diagnosed ALK-driven high-risk neuroblastoma, as well as a planned amendment to the European phase 3 trial in collaboration with the International Society of Paediatric Oncology European Neuroblastoma (SIOPEN).


Goldsmith et al. “Lorlatinib with or without chemotherapy in ALK-driven refractory/relapsed neuroblastoma: phase I trial results,” Nature Medicine, April 3, 2023, DOI: 10.1038/s41591-023-02297-5

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