May lysosomal-related genes be linked to atypical parkinsonism? a brazilian study

MOLECULAR GENETICS AND METABOLISM(2023)

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摘要
Most studies on focusing on the prevalence of vascular anomalies are either aimed to determine the individual occurrence of a specific type among known bearers of abnormalities or propose an estimation of prevalence for the general population by extrapolating from the paediatric population. In this scenario, we intended to assess the profile of vascular anomalies in a group of patients subjected to imaging studies, throughout a long period of time, to evaluate the frequency of abnormal findings in a consecutive, nonselected population.This is a retrospective review of 996,569 computed tomography and magnetic resonance studies between 2009 and 2019. Findings were grouped as vascular tumours (hemangiomas; vascular tumours), cavernomas, and vascular malformations. Positive findings were evaluated with regard to patients’ demographic characteristics and anatomic distribution and the subset of vascular malformations was also evaluated with regard to size, classification in accordance to flow pattern, and Hamburg Classification.Eighteen thousand four hundred thirty positive examinations were evaluated (mean age, 55.82 ± 15.43 years; 8,188 men). Vascular anomalies were present in 18.49 per 1,000 examinations (17.41 hemangiomas; 0.69 cavernomas and 0.39 vascular malformations per 1,000 examinations). Hemangiomas and cavernomas were homogeneous in anatomic location between sexes throughout the age groups. Complex malformations were heterogeneous in anatomic distribution between the sexes in each age group, with intracranial findings decreasing for female patients in older groups.Vascular anomalies were found in 18.49 per 1,000 examinations. Hemangiomas and cavernomas were homogenously distributed, whereas complex malformations displayed a heterogeneous anatomic distribution pattern between sexes in each age group.
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atypical parkinsonism,genes,lysosomal-related
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