Results 141 to 150 of about 577,319 (266)

Hypercalcemia of Down Syndrome. [PDF]

JCEM Case Rep
Lamb S, Litao M, Talib N, Redel J.
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Inflammation Associated With Obesity, Aging, and Amyloid Burden in Adults With Down Syndrome. [PDF]

Obesity (Silver Spring)
Fleming-Batayneh VL, Helsel BC, Ptomey LT, Handen BL, Mapstone M, Petersen M, Krinsky-McHale SJ, Hom CL, Minhas D, Luo W, Laymon C, Lee JH, Cohen A, Ances BM, Brickman AM, Pulsifer M, Rosas HD, Lai F, Zaman SH, Head E, Tudorascu D, Price J, Schmitt F, Christian BT, Okonkwo O, Hartley SL, Alzheimer Biomarkers Consortium‐Down Syndrome (ABC‐DS) Investigators.   +26 more
europepmc   +1 more source

Anti‐CD19 CAR T Cells in Autoimmune Encephalitis: Inflammation Controlled, Neurodegeneration Unchecked?

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Just recently, successful chimeric antigen receptor (CAR) T cell therapy was reported in the first patient with refractory, anti‐diacylglycerol lipase alpha (DAGLA) antibody‐mediated autoimmune encephalitis, achieving partial clinical remission.
Dimitrios Mougiakakos, Marwa Al‐Dubai, Denise Walther, Dominic Borie, Jan D. Lünemann, Marc Pawlitzki, Sven G. Meuth, Solveig Henneicke, Stefan Vielhaber, Stefanie Schreiber   +9 more
wiley   +1 more source

Subclinical inflammation in children with Down syndrome: implications for preventive care. [PDF]

Ann Pediatr Endocrinol Metab
Sharma C, Hashim MJ, Azzabi TE, Hamad SA, Mohammed E, Yasin J, Abdulrazzaq YM, Aburawi EH.   +7 more
europepmc   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Revisiting down syndrome through the lens of interferonopathy and innate immune dysregulation. [PDF]

Front Immunol
Wang G, Shi W, Liao S, Hao B.
europepmc   +1 more source

Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran, Malo Gaubert, Alice Dufey, Elise Bannier, Audrey Rico, Jean‐Christophe Ferré, Raphaël Chouteau, Laure Michel, Emmanuelle Le Page, Virginie Callot, Bertrand Audoin, Sarah Demortière, Benoît Combès, Anne Kerbrat   +13 more
wiley   +1 more source

Immunosuppression in down syndrome regression disorder: a prospective observational cohort study. [PDF]

Brain Commun
Santoro JD, Kazerooni L, Lucas MC, Yousuf MM, Otey ST, Bouchard S, Frost KC, Nguyen L, Anadani NA, Mahmud A, Manning MA, Rachubinski AL, Kammeyer RM, Patel L, Koster LEA, van Eeghen AM, Spinazzi NA, Franklin C, Quinn EA, Espinosa JM, Rafii MS.   +20 more
europepmc   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source