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Showing results for moelle delay
Search for Maëlle Delay instead (2 results)
Histiocytosis.
Emile JF, Cohen-Aubart F, Collin M, Fraitag S, Idbaih A, Abdel-Wahab O, Rollins BJ, Donadieu J, Haroche J. Emile JF, et al. Lancet. 2021 Jul 10;398(10295):157-170. doi: 10.1016/S0140-6736(21)00311-1. Epub 2021 Apr 23. Lancet. 2021. PMID: 33901419 Free PMC article. Review.
The low incidence and broad spectrum of clinical manifestations often leads to diagnostic delay, especially for adults. In most cases, biopsy specimens infiltrated by histiocytes have somatic mutations in genes activating the MAP kinase cell-signalling pathway. ...
The low incidence and broad spectrum of clinical manifestations often leads to diagnostic delay, especially for adults. In most cases …
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
Variants in KCNB1 have been recently reported in patients with early-onset DEE. KCNB1 encodes the alpha subunit of the delayed rectifier voltage-dependent potassium channel K(v) 2.1. We review the 37 previously reported patients carrying 29 distinct KCNB1 variants and sign …
Variants in KCNB1 have been recently reported in patients with early-onset DEE. KCNB1 encodes the alpha subunit of the delayed rectif …
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Here, we identified 15 de novo missense variants in the PSMC3 gene encoding the AAA-ATPase proteasome subunit PSMC3/Rpt5 in 23 unrelated heterozygous patients with an autosomal dominant form of neurodevelopmental delay and intellectual disability. Expression of PSMC3 varia …
Here, we identified 15 de novo missense variants in the PSMC3 gene encoding the AAA-ATPase proteasome subunit PSMC3/Rpt5 in 23 unrelated het …
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
CONCLUSIONS: This study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features....
CONCLUSIONS: This study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficie …
[Toward a preventive management Alzheimer's disease].
Dubois B, Bombois S, Villain N, Teichmann M, Epelbaum S, Migliaccio R, Genthon R, Verrat B, Lesoil C, Levy M, Le Ber I, Levy R. Dubois B, et al. Bull Acad Natl Med. 2020 Jun;204(6):583-588. doi: 10.1016/j.banm.2020.04.012. Epub 2020 Apr 21. Bull Acad Natl Med. 2020. PMID: 32322104 Free PMC article. Review. French.
However, three major data may change the severity of these pathologies: in young adults, simple measures of healthy lifestyle (control of vascular risk factors, physical activity and cognitive stimulation), have an impact on a future cognitive decline; the same lifestyle interven …
However, three major data may change the severity of these pathologies: in young adults, simple measures of healthy lifestyle (control of va …
Visual Outcomes Following Plasma Exchange for Optic Neuritis: An International Multicenter Retrospective Analysis of 395 Optic Neuritis Attacks.
Chen JJ, Flanagan EP, Pittock SJ, Stern NC, Tisavipat N, Bhatti MT, Chodnicki KD, Tajfirouz DA, Jamali S, Kunchok A, Eggenberger ER, Nome MAD, Sotirchos ES, Vasileiou ES, Henderson AD, Arnold AC, Bonelli L, Moss HE, Navarro SEV, Padungkiatsagul T, Stiebel-Kalish H, Lotan I, Wilf-Yarkoni A, Danesh-Meyer H, Ivanov S, Huda S, Forcadela M, Hodge D, Poullin P, Rode J, Papeix C, Saheb S, Boudot de la Motte M, Vignal C, Hacohen Y, Pique J, Maillart E, Deschamps R, Audoin B, Marignier R. Chen JJ, et al. Am J Ophthalmol. 2023 Aug;252:213-224. doi: 10.1016/j.ajo.2023.02.013. Epub 2023 Feb 21. Am J Ophthalmol. 2023. PMID: 36822570

Patients with poor outcomes were older (P = .002), had worse VA at the time of PLEX (P < .001), and longer delay to PLEX (P < .001). In comparison with the ONTT subset with severe corticosteroid-unresponsive ON, a final VA of worse than 20/40 occurred in 6 of 50 (12%

…

Patients with poor outcomes were older (P = .002), had worse VA at the time of PLEX (P < .001), and longer delay to PLEX (P < .

…
Radiotherapy for newly diagnosed primary central nervous system lymphoma: role and perspective.
Thomas A, Houillier C, Antoni D, Hoang-Xuan K, Soussain C, Jacob J, Feuvret L. Thomas A, et al. Rep Pract Oncol Radiother. 2023 Jun 26;28(2):271-285. doi: 10.5603/RPOR.a2023.0028. eCollection 2023. Rep Pract Oncol Radiother. 2023. PMID: 37456704 Free PMC article. Review.
In the 1990s, the addition of high dose Methotrexate-based induction chemotherapy (HD MTX-based CT) has enabled a drastic improvement in PCNSL patients outcome. However, combined treatment has led to radiation-induced delayed neurotoxicity, especially in older patients. Al …
In the 1990s, the addition of high dose Methotrexate-based induction chemotherapy (HD MTX-based CT) has enabled a drastic improvement in PCN …
The Emergence of a New Conceptual Framework for Alzheimer's Disease.
Dubois B. Dubois B. J Alzheimers Dis. 2018;62(3):1059-1066. doi: 10.3233/JAD-170536. J Alzheimers Dis. 2018. PMID: 29036825 Free PMC article. Review.
This traditional algorithm had three major limitations that penalize the disease: 1) a low accuracy of the performance which may share responsibility for negative results in clinical trials; 2) a late identification of the patients only when they reach the threshold of dementia w …
This traditional algorithm had three major limitations that penalize the disease: 1) a low accuracy of the performance which may share respo …
Spinal cord injury after thoracic endovascular aortic aneurysm repair.
Awad H, Ramadan ME, El Sayed HF, Tolpin DA, Tili E, Collard CD. Awad H, et al. Can J Anaesth. 2017 Dec;64(12):1218-1235. doi: 10.1007/s12630-017-0974-1. Epub 2017 Oct 10. Can J Anaesth. 2017. PMID: 29019146 Free PMC article. Review.
Its incidence after TEVAR is not significantly reduced when compared with open thoracoabdominal aortic aneurysm repair. Nevertheless, compared with open procedures, delayed paralysis/paresis is the predominant presentation of SCI after TEVAR. ...
Its incidence after TEVAR is not significantly reduced when compared with open thoracoabdominal aortic aneurysm repair. Nevertheless, compar …
Functional imaging correlates of akinesia in Parkinson's disease: Still open issues.
Spay C, Meyer G, Welter ML, Lau B, Boulinguez P, Ballanger B. Spay C, et al. Neuroimage Clin. 2019;21:101644. doi: 10.1016/j.nicl.2018.101644. Epub 2018 Dec 18. Neuroimage Clin. 2019. PMID: 30584015 Free PMC article. Review.
We adhere to a use of the term akinesia restricted to dysfunctions of movement initiation, ranging from delayed response to freezing or even total abolition of movement. ...
We adhere to a use of the term akinesia restricted to dysfunctions of movement initiation, ranging from delayed response to freezing …
163 results