Publications by authors named "L Du Pasquier"
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
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- RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
- The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
- Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
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- MRKH syndrome is a serious condition that affects women's reproductive systems and can have other health issues, like kidney problems or heart defects.
- Most women with MRKH have not been thoroughly checked for other related health problems, which is important for their treatment options.
- Some women with MRKH may be able to get a uterine transplant, but many do not meet the criteria to be eligible for this procedure.
« Prediction is very difficult, especially if it is about the future of comparative immunology" could one say to paraphrase Niels Bohr. Yet, if one avoids mistakes of the past and fashions, if one remains ready to welcome surprises an do not to get drowned in big data while profiting from new technologies, if one keeps common sense between expanding and restricting one's scope of investigation in front of the enormous diversity of the tree of life, comparative immunologists are going, in new areas of research and with new tools, to keep contributing enormously to immunology. They will reveal, with the eyes open to homologies and analogies among multiple species, more variations on the theme of immunity and will put the human immune system in perspective a necessary situation to face the questions that remain to be answered in order to improve health or to understand evolution of immune systems.
View Article and Find Full Text PDFThe shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery.
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