Results 121 to 130 of about 2,216,863 (314)
ABSTRACT The Clinical Assessment Scale in Autoimmune Encephalitis (CASE) tracks disease severity in autoimmune encephalitis (AE), but no threshold for significant change exists. We aimed to determine the minimally clinically important difference (MCID) for CASE.
Yihui Goh +8 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Objective: To evaluate the effectiveness and safety of Curcumin-mediated Photodynamic Therapy (Curcumin-PDT) in the treatment of mild to moderate acne. Methods: In this randomized split-face controlled study, 11 patients with mild to moderate acne were ...
YunFeng Zhang +6 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Trichilemmal carcinoma (TC), a rare malignancy originating from hair follicle cells, typically affects sun-exposed skin in older individuals and necessitates differential diagnosis from other skin carcinomas.
Chan Hu +7 more
doaj +1 more source
Effect of a Clinical Evidence Technology on Patient Skin Disease Outcomes in Primary Care: A Cluster-Randomized Controlled Trial [PDF]
Objective: Providers’ use of clinical evidence technologies (CETs) improves their diagnosis and treatment decisions. Despite these benefits, few studies have evaluated the impact of CETs on patient outcomes. Investigators evaluated the effect of one CET,
Burke, Marianne +1 more
core +1 more source
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
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
Extramammary Paget's disease (EMPD) is a rare cutaneous malignancy that poses significant therapeutic challenges due to its refractory nature and high recurrence rate. Although surgery remains the standard treatment, non-surgical alternatives are crucial
Dekun Song +6 more
doaj +1 more source

