Researchers carried out work, to study the genetic cause of bilateral macronodular adrenal hyperplasia with diet-induced Cushing's syndrome. This rare disease affects the two adrenal glands located above the kidneys and causes an overproduction of cortisol, a steroid hormone whose excess has harmful consequences for the body . Researchers were able to determine the molecular explanation for the occurrence of this disease 30 years after its initial description.
Researchers, doctors and teacher-researchers analyzed blood samples from a cohort of 56 pediatric patients admitted to Hôpital Necker Enfants-Malades AP-HP. What they saw was the abnormal expression of several genes associated with the development of severe forms of myocarditis.
Most of us carry human papillomaviruses (HPVs) – particularly skin papillomaviruses that generally cause warts or benign local lesions. However, on very rare occasions worldwide patients develop severe forms of these viral diseases, including "tree man" syndrome. This highly debilitating disease manifests as the uncontrolled growth of horn-like skin lesions for which surgery is ineffective.
L’achondroplasie, forme de nanisme la plus courante, concerne environ une naissance sur 20 000. Le 30 mars 2021, un premier enfant français atteint d’achondroplasie a reçu un inhibiteur de tyrosine kinase, l’infigratinib, traitement expérimental en développement par QED Therapeutics, à l’Hôpital Necker-Enfants malades AP-HP, dans le cadre d’un essai clinique international.
Every year throughout the world, Group B Streptococcal (GBS) meningitis affects thousands of newborns. Often fatal, the disease can also lead to severe after-effects in survivors.
Diet is believed to play a role in triggering intestinal inflammation that can lead to the development of certain conditions, such as Crohn's disease. Researchers from Inserm, CNRS and Université de Paris have shown that the emulsifiers present in many processed foods could have a harmful impact on specific bacteria in the gut microbiota, leading to chronic inflammation.
A new therapeutic target for type 2 diabetes has recently been identified by researchers from Inserm and Université de Strasbourg, in collaboration with several European hospitals.
A study is showing for the first time that tobacco consumption, even when stopped before pregnancy, can have an impact on the placenta. Smoking not just during but also before pregnancy leads to epigenetic modifications (DNA methylation) which could have consequences on its course.
Researchers from Inserm, Université d’Evry, Université Paris-Saclay and Genethon have developed a novel platform for modifying the genome of hematopoietic stem cells, which give rise to blood cells. The use of these tools could provide new therapeutic solutions for many patients with rare genetic diseases.
In a study published in Science on July 13, teams from AP-HP, Inserm, Université of Paris, Institut Pasteur and Institut Imagine describe a unique and unexpected immunological phenotype in severe and critical patients, consisting of a severely impaired response of interferon (IFN) type I, associated with a persistent blood viral load and an excessive inflammatory response.