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
Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study
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 +4 more
wiley +1 more source
Pathological Vertebral Fractures Misdiagnosed as Osteoporotic Vertebral Fractures: A Case Series of Four Patients and Diagnostic Strategies. [PDF]
Lin JM, Yuan XJ, Li G, Gan XR, Xu WH.
europepmc +1 more source
Problematic Internet Use in Frontotemporal Dementia: A Case Series
ABSTRACT The present study investigated problematic internet use (PIU) among 61 patients with frontotemporal dementia (FTD) compared to a cohort of 354 patients with mild cognitive impairment (MCI) and Alzheimer's dementia. PIU was identified in 22.9% of FTD patients compared to only 0.8% of AD patients (p < 0.001). Behaviors included compulsive social
Daniele Urso +9 more
wiley +1 more source
Closing gaps through innovation in the tuberculosis pathology value chain. [PDF]
David A, Scott L, da Silva P, Stevens W.
europepmc +1 more source
Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro +6 more
wiley +1 more source
Non-visible disability in the medical curriculum: what medicine overlooks, patients inherit. [PDF]
Jerjes W, Majeed A.
europepmc +1 more source
MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru +13 more
wiley +1 more source
Long-term effectiveness of cognitive behavioral therapy (CBT) for children and adolescents in routine care. [PDF]
Hüwelmeier MM +8 more
europepmc +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source

