Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1.

This report presents a case of pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) in a 35 year-old male patient. The patient exhibited a consistent history of recurrent ischemic strokes, concentrated primarily in the pons region, accompanied by concurrent manifestations of leukoencephalopathy and microbleeds. Genetic evaluation revealed a heterozygous missense mutation consistent with c.3431C>G, p. Thr1144Arg substitution within exon 40 of the COL4A1 gene. This mutation was also identified in the patient's mother, affirming an autosomal dominant inheritance model. Our findings serve as testament to the potential role of mutation in the exon 40 of COL4A1 in the pathogenesis and progression of PADMAL, contributing to ongoing efforts aimed at better understanding the genetic basis of this debilitating disorder.

Low vitamin D levels and the long-term functional outcome of stroke up to 5 years.

BACKGROUND AND PURPOSE: Previous studies have established that vitamin D was associated with stroke. The purpose of this study was to investigate the relationship between vitamin D and 5-year outcome of patients with stroke including acute ischemic stroke (AIS) and intracranial hemorrhage (ICH) stroke. METHODS: Serum 25-hydroxyvitamin D levels were prospectively analyzed in patients admitted to the First Affiliated Hospital of Wenzhou Medical University from 2013 to 2015. Modified Rankin scale (mRS) was used to evaluate their 5-year functional outcome, and univariate and multivariate logistic regressions were applied to evaluate the effects of vitamin D on stroke outcome. RESULTS: In total, 668 patients diagnosed with stroke were recruited, and 420 completed the 5-year follow-up. Ninety-five patients experienced poor outcome in the 5 years since stroke onset. Vitamin D levels in patients with poor outcome showed significant differences compared to good outcome patients (p < .001). In multivariable logistic regression analysis, after adjusting the potential confounders, the 5-year functional outcome was significantly associated with vitamin D levels. Stroke patients with vitamin D levels less than 38.4 nmol/L had a higher risk for poor outcome compared with those with vitamin D level over 71.4 nmol/L at 5-year (odds ratio [OR] = 3.66, 95% confidence interval [CI] = 1.42-9.45, p = .007), which was consistent with AIS patients (OR = 6.36, 95% CI = 1.89-21.44, p = .003). CONCLUSION: Vitamin D level less than 38.4 nmol/L at admission is a potential risk biomarker for poor functional outcome at 5-year prognosis in AIS patients, which might provide new ideas for the prognostic assessment of stroke.

Corrigendum: Early-Onset Depression in Stroke Patients: Effects on Unfavorable Outcome 5 Years Post-stroke.

[This corrects the article DOI: 10.3389/fpsyt.2021.556981.].

Early-Onset Depression in Stroke Patients: Effects on Unfavorable Outcome 5 Years Post-stroke.

Background: Post-stroke depression (PSD) constitutes an essential complication of stroke and is associated with high-risk unfavorable outcome after stroke. The main objective of this prospective study was to determine the relationship between early-onset PSD (1 month after stroke) and functional outcomes 5 years after baseline enrollment. Methods: Four hundred thirty-six patients who met the criteria were included in this study from October 2013 to February 2015. The follow-up time for each patient was ~5 years, with follow-up every 3 months. Patients received questionnaires including the 17-item Hamilton Depression Scale (HAMD), the Mini-Mental State Examination (MMSE), the National Institutes of Health Stroke Scale (NIHSS), the modified Rankin Scale (mRS), and the Barthel Index (BI). Results: Of the 436 patients, 154 (35.3%) patients with the prevalence of PSD status at baseline, 26 (7.2%) patients with the prevalence of PSD status, and 73 (20.1%) had an unfavorable outcome 5 years after stroke. The odds ratio (OR) for unfavorable outcome at 5 years in the PSD group was ~2.2 relative to the non-PSD group after adjusting for potential risk factors [OR = 2.217, 95% confidence interval (CI) = 1.179-4.421, P = 0.015]. In the early-onset PSD group, HAMD scores were independently associated with 5-year unfavorable outcome rates (OR = 1.168, 95% CI = 1.015-1.345, P = 0.031). Conclusions: Our findings indicate that early-onset PSD status in Chinese patients is an independent risk factor for unfavorable outcome 5 years after stroke, and that the severity of PSD is also related to unfavorable outcome.

Correlations between age, biomedical variables, and cognition in patients with schizophrenia.

OBJECTIVE: To illustrate the influence of clinical variables on cognition performance in patients with schizophrenia (SCZ). METHODS: Using the 66nao Brain Training device (a novel measurement tool), the cognitive performance of 99 patients with SCZ was evaluated. Patients were diagnosed by the ICD-10 diagnostic criteria for SCZ, and their age were 16-68 years old. Furthermore, we explored the relationship between age, biomedical variables and specific cognitive domains in patients with SCZ. Patients were divided into two groups: various of cognitive domains impairment group and non-impairment group according to the norm scores. All data were analyzed using RStudio Version 1.0.44 (RStudio, Inc.). RESULTS: Patients with SCZ had obvious cognitive impairment in total and five subdomains of cognitive function. We found that 1) SCZ patients with impaired cognitive total score experienced significant older age and longer illness duration compared with those with normal cognitive total score. 2) SCZ patients with impaired memory experienced significant older age compared with those with normal memory. 3) SCZ patients with impaired attention showed significant lower serum triglyceride (TG) level compared with those with normal attention. 4) SCZ patients with impaired flexibility performed significant longer illness duration compared with those with normal flexibility. 5) SCZ patients with impaired cognitive agility performed significant older age, longer duration, and higher systolic blood pressure (SBP) compared with those with normal cognitive agility. 6) The age, illness duration and SBP in patients with impaired time perception were marginally different from those of subjects with normal time perception. CONCLUSION: There are five dimensions (memory, attention, flexibility, cognitive agility, and time perception) of cognitive dysfunction in SCZ patients. Age, illness duration, TG, and SBP might play vital roles in various subdomains of the cognitive deficits respectively in patients with SCZ.