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Genetic variants associated with longitudinal changes in brain structure across the lifespan.
Brouwer RM, Klein M, Grasby KL, Schnack HG, Jahanshad N, Teeuw J, Thomopoulos SI, Sprooten E, Franz CE, Gogtay N, Kremen WS, Panizzon MS, Olde Loohuis LM, Whelan CD, Aghajani M, Alloza C, Alnæs D, Artiges E, Ayesa-Arriola R, Barker GJ, Bastin ME, Blok E, Bøen E, Breukelaar IA, Bright JK, Buimer EEL, Bülow R, Cannon DM, Ciufolini S, Crossley NA, Damatac CG, Dazzan P, de Mol CL, de Zwarte SMC, Desrivières S, Díaz-Caneja CM, Doan NT, Dohm K, Fröhner JH, Goltermann J, Grigis A, Grotegerd D, Han LKM, Harris MA, Hartman CA, Heany SJ, Heindel W, Heslenfeld DJ, Hohmann S, Ittermann B, Jansen PR, Janssen J, Jia T, Jiang J, Jockwitz C, Karali T, Keeser D, Koevoets MGJC, Lenroot RK, Malchow B, Mandl RCW, Medel V, Meinert S, Morgan CA, Mühleisen TW, Nabulsi L, Opel N, de la Foz VO, Overs BJ, Paillère Martinot ML, Redlich R, Marques TR, Repple J, Roberts G, Roshchupkin GV, Setiaman N, Shumskaya E, Stein F, Sudre G, Takahashi S, Thalamuthu A, Tordesillas-Gutiérrez D, van der Lugt A, van Haren NEM, Wardlaw JM, Wen W, Westeneng HJ, Wittfeld K, Zhu AH, Zugman A, Armstrong NJ, Bonfiglio G, Bralten J, Dalvie S, Davies G, Di Forti M, Ding L, Donohoe G, Forstner AJ, Gonzalez-Peñas J, Guimaraes JPOFT, … See abstract for full author list ➔ Brouwer RM, et al. Nat Neurosci. 2022 Apr;25(4):421-432. doi: 10.1038/s41593-022-01042-4. Epub 2022 Apr 5. Nat Neurosci. 2022. PMID: 35383335 Free PMC article.
Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial.
Michael M, Groothoff JW, Shasha-Lavsky H, Lieske JC, Frishberg Y, Simkova E, Sellier-Leclerc AL, Devresse A, Guebre-Egziabher F, Bakkaloglu SA, Mourani C, Saqan R, Singer R, Willey R, Habtemariam B, Gansner JM, Bhan I, McGregor T, Magen D. Michael M, et al. Am J Kidney Dis. 2023 Feb;81(2):145-155.e1. doi: 10.1053/j.ajkd.2022.05.012. Epub 2022 Jul 14. Am J Kidney Dis. 2023. PMID: 35843439 Free article. Clinical Trial.
SETTING & PARTICIPANTS: Multinational study; enrolled patients with PH1 of all ages, estimated glomerular filtration rate 45 mL/min/1.73 m(2) (if age 12 months) or increased serum creatinine level (if age <12 months), and POx 20 mumol/L at screening, including patie …
SETTING & PARTICIPANTS: Multinational study; enrolled patients with PH1 of all ages, estimated glomerular filtration rate 45 mL/min/1.73 …
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.
A striking cerebellar involvement is usually observed. Later MRIs show spontaneous improvement of white matter abnormalities but worsening of the cerebellar involvement evolving to global atrophy and progressive involvement of brainstem. ...Brain white matter can be …
A striking cerebellar involvement is usually observed. Later MRIs show spontaneous improvement of white matter abnormalities but wors …
Unlocking the Value of White Blood Cells for Heart Failure Diagnosis.
Meier S, Henkens M, Heymans S, Robinson EL. Meier S, et al. J Cardiovasc Transl Res. 2021 Feb;14(1):53-62. doi: 10.1007/s12265-020-10007-6. Epub 2020 May 4. J Cardiovasc Transl Res. 2021. PMID: 32367341 Free PMC article. Review.
Current mainstay biomarkers for heart failure, including NT-pro-BNP and ejection fraction, lack sensitivity for many patients. Circulating white blood cells and peripheral blood mononuclear cells (PBMCs) are emerging as surrogate biopsies, reflecting molecular changes in t …
Current mainstay biomarkers for heart failure, including NT-pro-BNP and ejection fraction, lack sensitivity for many patients. Circulating …
MRI Natural History of the Leukodystrophy Vanishing White Matter.
Stellingwerff MD, Al-Saady ML, van de Brug T, Barkhof F, Pouwels PJW, van der Knaap MS. Stellingwerff MD, et al. Radiology. 2021 Sep;300(3):671-680. doi: 10.1148/radiol.2021210110. Epub 2021 Jun 29. Radiology. 2021. PMID: 34184934

Patients with later onset had higher VSR [F(5) = 8.42; P < .001] and CSF volume [F(5) = 21.7; P < .001] and lower white matter decay score [F(5) = 4.68; P < .001] and rarefied or cystic white matter volume [F(5) = 13.3; P < .001]. ...Conclusion A radiolo

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Patients with later onset had higher VSR [F(5) = 8.42; P < .001] and CSF volume [F(5) = 21.7; P < .001] and lower white matter

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Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion.
van der Knaap MS, Bonkowsky JL, Vanderver A, Schiffmann R, Krägeloh-Mann I, Bertini E, Bernard G, Fatemi SA, Wolf NI, Saunier-Vivar E, Rauner R, Dekker H, van Bokhoven P, van de Ven P, Leferink PS. van der Knaap MS, et al. Neurol Genet. 2022 Feb 2;8(2):e657. doi: 10.1212/NXG.0000000000000657. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35128050 Free PMC article. Review.
Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in the genes EIF2B1-EIF2B5. ...
Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in the genes EIF2B1-EIF2B5. ...
Correction to Armstrong-Carter et al. (2023).
[No authors listed] [No authors listed] Dev Psychol. 2023 Dec;59(12):2222. doi: 10.1037/dev0001664. Dev Psychol. 2023. PMID: 38010797
Reports an error in "Momentary links between adolescents' social media use and social experiences and motivations: Individual differences by peer susceptibility" by Emma Armstrong-Carter, Shedrick L. Garrett, Elizabeth A. Nick, Mitchell J. ...The sample was 212 adol …
Reports an error in "Momentary links between adolescents' social media use and social experiences and motivations: Individual differences by …
Clinical and laboratory features of patients diagnosed with alpha-gal syndrome-2010-2019.
Binder AM, Cherry-Brown D, Biggerstaff BJ, Jones ES, Amelio CL, Beard CB, Petersen LR, Kersh GJ, Commins SP, Armstrong PA. Binder AM, et al. Allergy. 2023 Feb;78(2):477-487. doi: 10.1111/all.15539. Epub 2022 Oct 14. Allergy. 2023. PMID: 36178236 Free PMC article.
RESULTS: Median age at onset was 53 years, 56% were female, 95% reported White race, 86% reported a history of tick bite, and 75% met the criteria for anaphylaxis based on the involvement of 2 organ systems. ...
RESULTS: Median age at onset was 53 years, 56% were female, 95% reported White race, 86% reported a history of tick bite, and 75% met …
Cardioprotective interventions for cancer patients receiving anthracyclines.
van Dalen EC, Caron HN, Dickinson HO, Kremer LC. van Dalen EC, et al. Cochrane Database Syst Rev. 2008 Apr 16;(2):CD003917. doi: 10.1002/14651858.CD003917.pub3. Cochrane Database Syst Rev. 2008. PMID: 18425895 Updated. Review.
MAIN RESULTS: We identified RCTs for seven cardioprotective agents: N-acetylcysteine, phenetylamines, coenzyme Q10, combination of vitamins E and C and N-acetylcysteine, L-carnitine, carvedilol and dexrazoxane (mostly adults with advanced breast cancer). ...No evidence was …
MAIN RESULTS: We identified RCTs for seven cardioprotective agents: N-acetylcysteine, phenetylamines, coenzyme Q10, combination of vitamins …
NutriBrain: protocol for a randomised, double-blind, controlled trial to evaluate the effects of a nutritional product on brain integrity in preterm infants.
Hortensius LM, van den Hooven EH, Dudink J, Tataranno ML, van Elburg RM, Benders MJNL. Hortensius LM, et al. BMC Pediatr. 2021 Mar 17;21(1):132. doi: 10.1186/s12887-021-02570-x. BMC Pediatr. 2021. PMID: 33731062 Free PMC article.
The NutriBrain study aims to evaluate the benefits of a combination of probiotics, prebiotics and L-glutamine on white matter microstructure integrity (i.e., development of white matter tracts) at term equivalent age in very and extremely preterm born infants …
The NutriBrain study aims to evaluate the benefits of a combination of probiotics, prebiotics and L-glutamine on white matter …
50 results