Results 211 to 220 of about 6,124,785 (303)
A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento +3 more
wiley +1 more source
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
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 +19 more
wiley +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
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 +3 more
wiley +1 more source
Hydroxymethylbilane synthase (HMBS) gene-based endogenous internal control for avian species. [PDF]
Wang Y +13 more
europepmc +1 more source
Objective We evaluated the ability of the Renal Activity Index for Lupus (RAIL) to discriminate active lupus nephritis (LN) in adult patients with active systemic lupus erythematosus (SLE) and differentiate LN treatment response. Methods Urine samples from adults with biopsy‐proven active class III and IV LN from TULIP‐LN (active LN group ...
Hermine I. Brunner +12 more
wiley +1 more source
Objective This study assessed sarilumab in treating patients with polyarticular‐course juvenile idiopathic arthritis (pcJIA). Methods This phase 2b, open‐label study (NCT02776735) consisted of three sequential parts (each with a core‐treatment and extension phase).
Fabrizio De Benedetti +19 more
wiley +1 more source
INTERNE CONTROLE EN CONTROLE TECHNIEK [PDF]
openaire +3 more sources
Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg +20 more
wiley +1 more source

