Neurol India
Department of Neurology, Children's Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.
Published: January 2024
Background: DM1 is a multisystem disorder caused by expansion of a CTG triplet repeat in the 3' non-coding region of DMPK. Neuropsychological consequences and sleep abnormalities are important associations in DM1.
Objective: To describe the clinical phenotype, disease progression and characterize the sleep alterations and cognitive abnormalities in a sub-set of patients.
Materials And Methods: A retrospective study on 120 genetically confirmed DM1 cases. Findings in neuropsychological assessment and multiple sleep questionnaires were compared with 14 age and sex matched healthy individuals. All 120 patients were contacted through letters/telephonic consultation/hospital visits to record their latest physical and functional disabilities.
Results: The mean age at symptom onset was 23.1 ± 11.4 years, M: F = 3.8:1, mean duration of illness = 14.3 ± 9.5 years. Clinically 54.2% had adult onset form, juvenile = 27.5%, infantile = 10.8%, late adult onset = 7.5%. Paternal transmission occurred more frequently. The predominant initial symptoms were myotonia (37.5%), hand weakness (21.7%), lower limb weakness (23.3%) and bulbar (10%). Twenty patients completed sleep questionnaires (SQ). Abnormal scores were noted in Epworth sleepiness scale (55%); Pittsburgh sleep quality index (45%); Berlin SQ (30%); Rapid eye movement sleep Behaviour Disorder SQ (15%); Restless leg syndrome rating scale (10%). Neuropsychological assessment of 20 patients revealed frontal executive dysfunction, attention impairment and visuospatial dysfunction. Frontal lobe was most affected (72%) followed by parietal (16%) and temporal lobe (12%).
Conclusions: The current study provides a comprehensive account of the clinical characteristics in Indian patients with DM1. Hypersomnolence was most commonly seen. Excessive daytime sleepiness and Sleep disordered breathing were the most common sleep related abnormality. Cognitive impairment comprised predominantly of frontal lobe dysfunction.
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http://dx.doi.org/10.4103/neuroindia.NI_1432_20 | DOI Listing |
J Med Internet Res
January 2025
Institute of Medical Teaching and Medical Education Research, University Hospital Würzburg, Würzburg, Germany.
Background: Objective structured clinical examinations (OSCEs) are a widely recognized and accepted method to assess clinical competencies but are often resource-intensive.
Objective: This study aimed to evaluate the feasibility and effectiveness of a virtual reality (VR)-based station (VRS) compared with a traditional physical station (PHS) in an already established curricular OSCE.
Methods: Fifth-year medical students participated in an OSCE consisting of 10 stations.
J Neurosurg
January 2025
8Department of Healthcare Administration and Medical Informatics, Kaohsiung Medical University, Kaohsiung.
Objective: This study focuses on epidermal growth factor receptor-mutated lung adenocarcinoma, known for frequent brain metastasis. It aimed to compare the clinical outcomes and cost-effectiveness of combining Gamma Knife radiosurgery (GKRS) with tyrosine kinase inhibitors (TKIs) (GKRS+TKI group) versus TKIs alone (TKI group) for the treatment of patients with newly diagnosed brain metastasis in this condition.
Methods: Study characteristics of the two groups were matched using inverse probability of treatment weighting (IPTW).
J Neurosurg
January 2025
2Department of Radiology, New York University Grossman School of Medicine, New York, New York.
Objective: The objective was to comprehensively investigate the clinical, molecular, and imaging characteristics and outcomes of H3 K27-altered diffuse midline glioma (DMG) in adults.
Methods: Retrospective chart and imaging reviews were performed in 111 adult patients with H3 K27-altered DMG from two tertiary institutions. Clinical, molecular, imaging, and survival characteristics were analyzed.
Eur Thyroid J
January 2025
Z Qiu, Department of Nuclear Medicine, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Shanghai, 200233, China.
Objective: Pleural metastasis (PM) is rare in patients with differentiated thyroid cancer (DTC). Radioiodine (131I) therapy has been the main treatment for postoperative metastasis and recurrence of DTC. However, clinical data on PM from DTC are limited.
View Article and Find Full Text PDFPLoS One
January 2025
School of Artificial Intelligence and Information Technology, Nanjing University of Chinese Medicine, Nanjing, China.
Background: Previous studies have shown that both the composite dietary antioxidant index (CDAI) and sex are strongly associated with a variety of cardiovascular diseases, but sex differences between CDAI and hyperlipidemia are unknown.
Objective: This study utilized data from the National Health and Nutrition Examination Survey (NHANES) to investigate the sex differences between CDAI and hyperlipidemia.
Method: We calculated the CDAI of the six dietary antioxidants using data from NHANES, explored the relationship between CDAI and the prevalence of hyperlipidemia using multivariate logistic regression analysis, and analyzed for potential nonlinear associations using restricted cubic spline.
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