ObjectiveTo explore the correlation between urinary disorders and imaging changes of cerebral small vessel diseases (CSVDs) in community-dwelling populations.MethodsA cross-sectional analysis was conducted on participants enrolled in the Shunyi study from June 2013 to April 2016. Eligible participants were community-dwelling populations aged ≥35 years with interpretable magnetic resonance imaging scans and no history of stroke or urinary system diseases. Data on demographic characteristics, vascular risk factors, cognitive functions, and urinary disorders (including any form of urinary disorders, incontinence, daytime urination frequency, and nocturnal urination frequency) were collected. Imaging changes including white matter hyperintensities (WMHs), lacunes, cerebral microbleeds (CMBs), perivascular spaces (PVSs), and brain volume were measured using 3 T magnetic resonance imaging. Logistic regression model analysis was performed to identify the potential correlations between urinary disorders and imaging markers of CSVD.ResultsA total of 916 participants (with a mean age of 57.4 years; 36.2% were males) were finally enrolled in this study based on the enrollment criteria. CSVD imaging changes of WMHs, lacunes, CMBs, PVSs or brain volume were not associated with any form of urinary disorders in multivariable models (P>0.05). CSVD imaging changes were not associated with presence of urinary incontinence (P>0.05). In terms of urinary frequency, the CSVD imaging changes were not related to nocturnal urinary frequency (P>0.05). However, lower brain volume was correlated with daytime urination frequency [3-5 vs. <3 times per day: odds ratio (OR)=2.520, 95% confidence interval (CI) (1.278, 4.972), P=0.008; >5 vs. <3 times per day: OR=3.115, 95%CI (1.317, 7.372), P=0.010].ConclusionBrain atrophy may affect daytime urination frequency in community-dwelling populations.
ObjectiveTo analyze the genotype and clinical features of children with epilepsy associated with CACNA1A variants. MethodsThe genotype, phenotype and neuroimaging features of 27 patients with CACNA1A variants in the pediatrics department of Peking University First Hospital from September 2013 to February 2022 were analyzed. ResultsThere were 9 males and 18 females, whose age ranged from 6 months to 19 years old (medium: 4 years old and 3 months). There were 22 missense variants, three nonsense variants and two frameshift variants. 25 variants were de novo. Age at seizure onset ranged from 1 day to 8 years old and 6 months (medium: 14 months). Multiple seizure types were observed, including focal seizures in 20 patients, generalized tonic–clonic seizures (GTCS) in 7 patients, absence seizures in 5 patients, myoclonic seizures in 3 patients, epileptic spasms and tonic seizures in 1 patient respectively. 16 patients had status epilepticus, including focal motor status epilepticus in 14 patients and generalized motor status epilepticus occurred in two patients. Two patients had acute encephalopathy. All 27 patients showed developmental delay. Interictal electroencephalogram showed generalized discharges in 8 patients, multi-focal discharges in 4 patients and focal discharges in 11 patients. Unilateral cortical atrophy occurred in 5 patients after focal motor status epilepticus. Two patients had bilateral cerebral atrophy after acute encephalopathy. Cerebellar atrophy in 2 patients. The age of last follow-up ranged from one year old to 17 years old and 3 months. Six patients were seizure-free , whereas 21 still had seizures. ConclusionThe seizure onset age of patients with CACNA1A variants usually began in infancy. The common seizure types include focal seizures, GTCS and absence seizures. Seizures are prone to status epilepticus, mainly focal motor status epilepticus. Patients usually had developmental delay. Unilateral cortical atrophy may occur after focal motor status epilepticus. Epilepsy associated with CACNA1A variants is usually refractory.