As there are no biological markers for the antemortem diagnosis of degenerative parkinsonian disorders, diagnosis currently relies upon the presence and progression of clinical features and confirmation depends on neuropathology. Clinicopathologic studies have shown significant false-positive and false-negative rates for diagnosing these disorders, and misdiagnosis is especially common during the early stages of these diseases. It is important to establish a set of widely accepted diagnostic criteria for these disorders that may be applied and reproduced in a blinded fashion. This review summarizes the findings of the SIC Task Force for the study of diagnostic criteria for parkinsonian disorders in the areas of Parkinson's disease, dementia with Lewy bodies, progressive supranuclear palsy, multiple system atrophy, and corticobasal degeneration. In each of these areas, diagnosis continues to rest on clinical findings and the judicious use of ancillary studies.
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http://dx.doi.org/10.1002/mds.10459 | DOI Listing |
J Int Neuropsychol Soc
January 2025
Department of Psychiatry, Ankara University, Ankara, Turkey.
Objectives: This study compared cognitive flexibility (CF) and emotion recognition (ER) in adolescents with eating disorders (ED) to a healthy group.
Methods: Forty healthy individuals aged 12-18 years with no psychiatric diagnosis and 46 patients diagnosed with anorexia nervosa (AN), bulimia nervosa (BN), or binge eating disorder (BED) according to DSM-5 criteria participated. CF was assessed using the Cognitive Flexibility Scale (CFS), Stroop Test, and Berg Card Sorting Test (BCST), while ER was evaluated using the test of perception of affect via nonverbal cues.
Orphanet J Rare Dis
January 2025
Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich- Heine University, Düsseldorf, Germany.
Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.
View Article and Find Full Text PDFJ Orthop Surg Res
January 2025
Department of Rheumatology and Immunology, Affiliated Hospital of Yangzhou University, Yangzhou University, No. 368 Hanjiang Middle Road, Yangzhou, Jiangsu, 225000, China.
Rheumatoid arthritis (RA), a chronic inflammatory joint disease causing permanent disability, involves exosomes, nanosized mammalian extracellular particles. Circular RNA (circRNA) serves as a biomarker in RA blood samples. This research screened differentially expressed circRNAs in RA patient plasma exosomes for novel diagnostic biomarkers.
View Article and Find Full Text PDFClin Epigenetics
January 2025
Center of Oncocytogenomics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and 1st Faculty of Medicine of Charles University in Prague, U Nemocnice 499/2, 128 00, Prague, Czech Republic.
Background: Glioblastoma is the commonest malignant brain tumor and has a very poor prognosis. Reduced expression of the MGMT gene (10q26.3), influenced primarily by the methylation of two differentially methylated regions (DMR1 and DMR2), is associated with a good response to temozolomide treatment.
View Article and Find Full Text PDFJ Occup Med Toxicol
January 2025
Indian Council of Medical Research-National Institute for Implementation Research on Non-Communicable Diseases, Jodhpur, 342005, India.
Background: Silicosis remains a major occupational health challenge in India. This review systematically examines the prevalence, risk factors, regional differences, and diagnostic tools specific to India's high-risk industries. Additionally, it assesses policy gaps and offers insights from diverse clinical and qualitative studies, aiming to inform targeted public health interventions and support the development of effective occupational health policies.
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