Home › Posts tagged Déficit immunitaire combiné sévère (DICS)
Blog Archives

MCAD: Une nouvelle maladie diagnostiquée à la naissance

Posted on by par Posté dans Génétique, Medicine Théragenomique, Prédisposition génétique, Thasso Poste Aucun commentaire ↓

14 novembre 2019 – Le dépistage néonatal, qui porte aujourd’hui sur cinq maladies graves, va être complété par la détection d’une maladie supplémentaire dès le premier trimestre 2020, selon la ministre de la Santé en France. Donc, dès 2020, le déficit en MCAD, une maladie génétique parfois létale,

…

Read more ›

Tags : , , , , , , , , , , , , ,

thasso: faire un don

thasso: conditions

thasso: newest tweets

 

thasso: commentaires récents

thasso poste: magasin

View my Flipboard Magazine.

thasso: catégories

thasso: archives

thasso: chat simple

Vous devez être un utilisateur inscrit pour participer à ce tchat.

RSS random genetics

  • Findings in mice reveal possibilities for fetal drug therapy for deafness avril 6, 2020
    New research led by hearing scientists at Oregon Health & Science University suggests an avenue to treat and prevent intractable genetic disorders before birth.
  • Study of rare genetic disorder that effects the eyes avril 3, 2020
    Nagano prefecture is home to a group of people affected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies (FAP). This disease impacts the gene encoding protein transthyretin (TTR) which is produced in the liver and also eyes. Liver transplants are often a treatment for this disease, but severe eyesight problems such as cloudiness […]
  • Natural sunscreen gene influences how we make vitamin D avril 2, 2020
    Genetic variations in the skin can create a natural sunscreen, according to University of Queensland researchers investigating the genes linked with vitamin D.
  • Single mutation leads to big effects in autism-related gene avril 2, 2020
    A new study in Neuron offers clues to why autism spectrum disorder (ASD) is more common in boys than in girls. National Institutes of Health scientists found that a single amino acid change in the NLGN4 gene, which has been linked to autism symptoms, may drive this difference in some cases. The study was conducted […]
  • Lifestyle changes could delay memory problems in old age, depending on our genes avril 2, 2020
    Researchers from King's College London have shown that how we respond to changes in nutrients at a molecular level plays an important role in the aging process, and this is directed by some key genetic mechanisms.

RSS random science

  • Study of rare genetic disorder that effects the eyes avril 3, 2020
    Small gauge vitrectomy for vitreous amyloidosis and subsequent management of secondary glaucoma in patients with hereditary transthyretin amyloidosis.
  • Tissue dynamics provide clues to human disease avril 3, 2020
    Scientists in EMBL Barcelona's Ebisuya group, with collaborators from RIKEN, Kyoto University, and Meijo Hospital in Nagoya, Japan, have studied oscillating patterns of gene expression, coordinated across time and space within a tissue grown in vitro, to explore the molecular causes of a rare human hereditary disease known as spondylocostal dysostosis. Their results are published […]
  • Coronavirus: Virological findings from patients treated in a Munich hospital avril 3, 2020
    In early February, research teams from Charité - Universitätsmedizin Berlin, München Klinik Schwabing and the Bundeswehr Institute of Microbiology published initial findings describing the efficient transmission of SARS-CoV-2. The researchers' detailed report on the clinical course and treatment of Germany's first group of COVID-19 patients has now been published in Nature*. Criteria may now be […]
  • Case study: Treating COVID-19 in a patient with multiple myeloma avril 3, 2020
    A case study of a patient in Wuhan, China, suggests that the immunosuppressant tocilizumab may be an effective COVID-19 treatment for very ill patients who also have multiple myeloma and other blood cancers. The report, published in Blood Advances, also suggests that blood cancer patients may have atypical COVID-19 symptoms.
  • Indigenous American ancestry may be associated with HER2-positive breast cancer avril 3, 2020
    An increased proportion of Indigenous American (IA) ancestry was associated with a greater incidence of HER2-positive breast cancer, according to a study published in Cancer Research, a journal of the American Association for Cancer Research.
Top