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  1. Article ; Online: Le déficit en triose phosphate isomérase : une enzymopathie érythrocytaire rare et de pronostic sombre.

    Julien, Mélissa / Todosi, Calina / Fouyssac, Fanny / Lesesve, Jean-François / Gérard, Delphine / Perrin, Julien

    Annales de biologie clinique

    2023  Volume 81, Issue 2

    Abstract: Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional by its rarity (less than 100 cases described worldwide), but by its extreme ... ...

    Title translation Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis.
    Abstract Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional by its rarity (less than 100 cases described worldwide), but by its extreme severity. Indeed, it is characterized by a chronic hemolytic anemia, an increased susceptibility to infections and especially, a progressive neurological degeneration which leads to death in early childhood for the majority of cases. We report in our observation the history of diagnosis and clinical course of monozygotic twins born at 32 WA with triose phosphate isomerase deficiency.
    MeSH term(s) Humans ; Child, Preschool ; Triose-Phosphate Isomerase/metabolism ; Anemia, Hemolytic, Congenital Nonspherocytic/diagnosis ; Erythrocytes/metabolism ; Carbohydrate Metabolism, Inborn Errors/complications ; Carbohydrate Metabolism, Inborn Errors/diagnosis
    Chemical Substances Triose-Phosphate Isomerase (EC 5.3.1.1)
    Language French
    Publishing date 2023-03-23
    Publishing country France
    Document type English Abstract ; Journal Article
    ZDB-ID 418098-7
    ISSN 1950-6112 ; 0003-3898
    ISSN (online) 1950-6112
    ISSN 0003-3898
    DOI 10.1684/abc.2023.1789
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ud II Zs.203: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

    Sloboda, Natacha / Renard, Emeline / Lambert, Laetitia / Bonnet, Céline / Leheup, Bruno / Todosi, Calina / Schmitt, Emmanuelle / Feillet, François / Feigerlova, Eva / Piton, Amélie / Journeau, Pierre / Klein, Marc / Maillard, Louis / Chelly, Jamel / Renaud, Mathilde

    European journal of medical genetics

    2023  Volume 66, Issue 11, Page(s) 104853

    Abstract: Objective: Heterozygous variations in microtubule-associated serine/threonine kinase 1 gene (MAST1) were recently described in the mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM, MIM 618273), revealing the ... ...

    Abstract Objective: Heterozygous variations in microtubule-associated serine/threonine kinase 1 gene (MAST1) were recently described in the mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM, MIM 618273), revealing the importance of the MAST genes family in global brain development. To date, patients with MAST1 gene mutations were mostly young children with central nervous system involvement, impaired motor function, speech delay, and brain magnetic resonance imaging (MRI) abnormalities. Here, we report the clinical presentation of an adult patient with a rare and de novo MAST1 mutation with central hypogonadism that could extend this phenotype.
    Methods: A panel of 333 genes involved in epilepsy or cortical development was sequenced in the described patient. Routine biochemical analyses were performed, and hormonal status was investigated.
    Result: We report a 22-year-old man with a de novo, heterozygous missense variant in MAST1 (Chr19(GRCh37):g.12975903G > A, NP_055790.1:p.Gly517Ser). He presented with an epileptic encephalopathy associated with cerebral malformations, short stature, hypogonadotropic hypogonadism, and secondary osteopenia.
    Conclusion: This is the first patient with MAST1 gene mutation described with central hypogonadism, which may be associated with the phenotype of MCCCHCM syndrome.
    MeSH term(s) Child ; Male ; Humans ; Child, Preschool ; Young Adult ; Adult ; Nervous System Malformations/genetics ; Leukoencephalopathies/genetics ; Mutation ; Microtubules ; Hypogonadism/genetics
    Language English
    Publishing date 2023-09-25
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2023.104853
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 84/9: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

    Frémond, Marie-Louise / Hully, Marie / Fournier, Benjamin / Barrois, Rémi / Lévy, Romain / Aubart, Mélodie / Castelle, Martin / Chabalier, Delphine / Gins, Clarisse / Sarda, Eugénie / Al Adba, Buthaina / Couderc, Sophie / D' Almeida, Céline / Berat, Claire-Marine / Durrleman, Chloé / Espil, Caroline / Lambert, Laetitia / Méni, Cécile / Périvier, Maximilien /
    Pillet, Pascal / Polivka, Laura / Schiff, Manuel / Todosi, Calina / Uettwiller, Florence / Lepelley, Alice / Rice, Gillian I / Seabra, Luis / Sanquer, Sylvia / Hulin, Anne / Pressiat, Claire / Goldwirt, Lauriane / Bondet, Vincent / Duffy, Darragh / Moshous, Despina / Bader-Meunier, Brigitte / Bodemer, Christine / Robin-Renaldo, Florence / Boddaert, Nathalie / Blanche, Stéphane / Desguerre, Isabelle / Crow, Yanick J / Neven, Bénédicte

    Journal of clinical immunology

    2023  Volume 43, Issue 6, Page(s) 1436–1447

    Abstract: The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on a ... ...

    Abstract The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on a chronic enhancement of type I interferon signaling, JAK1/2 inhibition has been trialed in AGS, with clear improvements in cutaneous and systemic disease manifestations. Contrastingly, treatment efficacy at the level of the neurological system has been less conclusive. Here, we report our real-word approach study of JAK1/2 inhibition in 11 patients with AGS, providing extensive assessments of clinical and radiological status; interferon signaling, including in cerebrospinal fluid (CSF); and drug concentrations in blood and CSF. Over a median follow-up of 17 months, we observed a clear benefit of JAK1/2 inhibition on certain systemic features of AGS, and reproduced results reported using the AGS neurologic severity scale. In contrast, there was no change in other scales assessing neurological status; using the caregiver scale, only patient comfort, but no other domain of everyday-life care, was improved. Serious bacterial infections occurred in 4 out of the 11 patients. Overall, our data lead us to conclude that other approaches to treatment are urgently required for the neurologic features of AGS. We suggest that earlier diagnosis and adequate central nervous system penetration likely remain the major factors determining the efficacy of therapy in preventing irreversible brain damage, implying the importance of early and rapid genetic testing and the consideration of intrathecal drug delivery.
    MeSH term(s) Humans ; Autoimmune Diseases of the Nervous System/diagnosis ; Autoimmune Diseases of the Nervous System/drug therapy ; Autoimmune Diseases of the Nervous System/genetics ; Nervous System Malformations/diagnosis ; Nervous System Malformations/drug therapy ; Nervous System Malformations/genetics ; Signal Transduction ; Genetic Testing
    Language English
    Publishing date 2023-05-12
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-023-01500-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1640: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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