Prevalence and outcome of young stroke patients with middle cerebral artery stenosis.

BACKGROUND: Etiologies of acute ischemic stroke in young adults are heterogeneous. Middle cerebral artery (MCA) stenosis is a common finding in Asians which may be an important cause of stroke in young adults. However, studies of stroke in young Asian populations are rare. Our study was to investigate the prevalence and outcome of young stroke patients with MCA stenosis in Chinese populations. METHODS: Young patients with MCA territory infarction between January 2013 and September 2018 were retrospectively recruited. Subjects were defined as stenosis group (MCA stenosis ≥50%) and no-stenosis group (MCA stenosis<50% or no stenosis) by their MCA stenosis. For patients in stenosis group, they were categorized as uni-MCA stenosis subgroup and multiple stenosis subgroup. Demographic data, risk factors, imaging feature and complications were compared between groups. Prevalence of MCA stenosis and risk factor score (score ≥ 2 or 3) in different age groups were investigated. Modified Rankin Scale (mRS) was used for evaluating functional outcome at discharge (unfavorable outcome: 3-6). Binary logistic regression was performed to determine independent risk factors of unfavorable outcome. RESULTS: Two hundred forty-nine young stroke patients were included in our study and 110 (44.2%) patients were defined as stenosis group. 55 (50%) patients were categorized as uni-MCA stenosis subgroup and 55 (50%) were multiple stenosis subgroup. The most common traditional vascular risk factors included hypertension, hyperlipemia, smoking, hyperhomocysteinemia and alcohol consumption. Prevalence of risk factor score ≥ 2 or 3 increased with age, but not incidence of MCA stenosis. By TOAST classification, the most common etiologies were large-artery atherosclerosis (41.0%) and small vessel disease (33.7%). Compared with no-stenosis group, patients in stenosis group were more likely to have large territorial infarct, develop complications and have unfavorable outcome. No significant difference was found between patients in uni-MCA stenosis and multiple stenosis subgroups except history of stroke/TIA, risk factor score ≥ 3 and silent infarct. By logistic regression, hypertension (OR = 3.561; 95%CI, 1.494 to 8.492; p = 0.004), NIHSS scores at admission (OR = 1.438; 95%CI, 1.276 to 1.620; p = 0,000) and infarct size (p = 0.015) independently predicted unfavorable outcome. CONCLUSIONS: Forty-four point two percent young Chinese adults with MCA territory infarction had MCA stenosis. Prevalence of MCA stenosis did not increase with age. Patients with MCA stenosis had worse clinical outcome, however, only hypertension, NIHSS scores at admission and infarct size were independent predictors.

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.

BACKGROUND: Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable to mutations in the COL6A1, COL6A2, and COL6A3 genes. However, no case of collagen VI mutations with hematuria has been reported. We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R). CASE PRESENTATION: The patient was a 14-year-old boy presenting with muscle weakness from 3 years of age without any family history. Six months before admission, he developed recurrent gross hematuria, three bouts in total, with the presence of blood clots in the urine. Next-generation sequencing of his whole-exome was performed. The result of sequencing revealed a de novo heterozygous G-to-A nucleotide substitution at position 877 in exon 10 of the COL6A1 gene. After treatment, the hematuria healed, but the muscle weakness failed to improve. CONCLUSIONS: Hematuria in Bethlem myopathy can be caused by COL6 mutations, which may be related to the aberrant connection between collagen VI and collagen IV.

Features of branch occlusive disease-type intracranial atherosclerotic stroke in young patients.

BACKGROUND: Young ischemic stroke patients are common while classification and analysis based upon imaging characteristics are rarely reported. We intend to compare the clinical and MRI characteristics of cerebral stroke induced by intracranial atherosclerosis between young patients with branch occlusive disease (BOD) and those with non-branch occlusive disease (non-BOD) or small artery disease (SAD). METHODS: A total of 151 subjects with acute infarction within the middle cerebral artery (MCA) territory were included and patients with ipsilateral internal carotid artery stenosis or cardioembolism were excluded. Based on the distribution characteristics of infarction and the presence of ipsilateral MCA stenosis, the patients were divided into three groups: BOD-striatocapsular area infarction with ipsilateral MCA stenosis; non-BOD -infarction size exceeds the striatocapsular area and accompanied by ipsilateral MCA stenosis; SAD. The clinical and MCA stenosis characteristics of the three groups were compared. RESULTS: The number of BOD patients with hypertension was significantly higher than that of SAD (92.9% vs 53.7%, p = 0.000) and non-BOD (92.9% vs 57.1%, p = 0.001); subjects with smoking history significantly exceeded that of SAD (50% vs 26.9%, p = 0.03) and subjects with family history of cardiovascular disease was significantly less than that of non-BOD (14.3% vs 41.1%). Baseline NIHSS scores and mRS scores at discharge in patients with BOD were significantly lower than those with non-BOD (p = 0.000, p = 0.001). Majority of patients in non-BOD group displayed severe MCA stenosis (39 cases, 69.6%) while that in BOD group displayed mild stenosis (26 cases, 92.9%), and the difference was statistically significant (p = 0.000). Compared with non-BOD group, the stenosis in BOD group located at a relatively distal end in the M1 segment of MCA (S/M1, 58% vs 40%, p = 0.000) and was more localized (stenosis level/ (SL/M1), 1.86 (1.35-2.6) vs 2.9 (2.0-5.0), p = 0.002). CONCLUSION: BOD in young patients with ischemic stroke induced by intracranial atherosclerosis is not rare (33.3%) and its clinical manifestations and prognosis are similar to those of SAD. This may be related to the mild localized stenosis at the distal end in the M1 segment of MCA. Control of hypertension might play a positive role in secondary prevention.

Encephalopathy associated with propofol infusion syndrome: A case report.

INTRODUCTION: Propofol infusion syndrome (PRIS) is a rare but potentially fatal complication of propofol infusion. It is clinically characterized by metabolic acidosis, refractory bradycardia, rhabdomyolysis, renal failure, hyperlipidemia, and hepatomegaly. Brain lesion was only reported once in a pediatric patient. We present the 1st adult case with colon polyp and cancer who was diagnosed with PRIS. Her brain magnetic resonance imaging (MRI) and computed tomography (CT) scans reveal prominent bilateral brain lesions, matching with the proposed pathophysiologic mechanism of the syndrome. The patient received prompt acidosis correction and cardiorespiratory support. At last, she died from refractory circulatory failure. CONCLUSION: It may be necessary to order a prompt neuroimaging examination in patients suspected with PRIS to judge whether brain lesions exist or not.

SCL20A2 mutation presenting with acute ischemic stroke: a case report.

BACKGROUND: Primary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke. CASE PRESENTATION: A 56 years old man was transferred to our hospital because of 6 days of melena and 3 days of somnolence, agitation and mood changes. Computed tomography (CT) scan showed symmetrical calcifications in bilateral basal ganglia, caudate nucleus, thalami, subcortical white matter and cerebellum, which is consistent with PFBC. Brain magnetic resonance imaging (MRI) revealed acute ischemic stroke in bilateral basal ganglia and periventricular regions. Mutational analysis identified a SLC20A2 gene mutation c.344C > T (p.Thr115Met) in exon 3. One of his daughters had also suffered from brain calcification. MR perfusion imaging revealed hypoperfusion in bilateral basal ganglia, prefrontal and temporal lobe. After treatment, he discharged with a favorable functional outcome but cognitive impairment. CONCLUSIONS: Ischemic stroke can occur in PFBC patients, which may be associated with hypoperfusion and calcification of arteries. And hypoperfusion in frontotemporal lobar may be related with their cognitive impairment.

Increased plasma orexin-A levels in patients with insomnia disorder are not associated with prepro-orexin or orexin receptor gene polymorphisms.

Orexins, also known as hypocretins, play a regulatory role in the sleep-wake cycle by activating orexin receptors. Previous animal studies have shown that sleep deprivation can elevate orexinergic peptide levels. However, the relationship between insomnia disorder and orexin-A levels in humans has not been explored. In the current study, we examined plasma orexin-A levels in patients with insomnia disorder and in normal sleepers. We also studied the possible mechanisms underlying changes in orexin-A levels between the study groups; this included investigations of prepro-orexin and orexin receptor gene polymorphisms as well as exploration of other variables. We measured plasma orexin-A levels in 228 patients with insomnia disorder and 282 normal sleepers. The results indicated that the patients with insomnia disorder had significantly higher orexin-A levels than normal sleepers (63.42±37.56 vs. 54.84±23.95pg/ml). A positive relationship was detected between orexin-A level and age in patients with insomnia disorder. Orexin-A levels were elevated in relation to course of insomnia, as well as in relation to increased Insomnia Severity Index score. None of the evaluated prepro-orexin gene single nucleotide polymorphisms were informative between the two study populations. After sequencing all orexin receptor exons, one variation (rs2271933) in the OX1R gene and one variation (rs2653349) in the OX2R gene were found. However, no significant differences were found in either genotypic or allelic frequency distributions between the two study groups. It is suggested that the increased plasma orexin-A levels in patients with insomnia disorder are associated with the course and severity of insomnia, but not with prepro-orexin and orexin receptor gene polymorphisms.

Unilateral internuclear ophthalmoplegia with upbeat nystagmus from ischemic origin: evidence for the paramedian tract neurons as a vertical neural integrator?

Only a few cases with unilateral internuclear ophthalmoplegia have been reported presenting vertical nystagmus, and few of them provides convincing evidence for the paramedian tract neuron to be a vertical neural integrator. We report a patient who suffered from confined dorsal mid-upper pontine infarction showing unilateral internuclear ophthalmoplegia with upbeat nystagmus in primary position. This case possibly provide evidence that paramedian tract neurons may act as a vertical neural integrator in human.

Chlamydia pneumoniae infection and cerebrovascular disease: a systematic review and meta-analysis.

BACKGROUND: A wealth of published studies have been published on association between Chlamydia pneumoniae (C.pneumoniae) infection and cerebrovascular (CV) disease, but the results were inconsistent. This meta-analysis provides a systematic review of the available evidence from all serological and pathological studies of CV disease and C.pneumoniae. METHODS: A comprehensive research was conducted of MEDLINE, EMBASE, CNKI, WanFang technological periodical database and reference lists of articles to identify eligible case-control and cohort studies. Odds radio (OR) was calculated for each study outcome. Random effect model was used as pooling method and publication bias was estimated for the results. RESULTS: Fifty-two published studies that met criteria were selected. In case control studies, an association between C.pneumoniae infection and CV disease was revealed by serum specific IgG (OR, 1.61; 95% CI: 1.34 to 1.94), serum IgA (OR, 2.33; 95% CI: 1.76 to 3.08) and PCR technique of C.pneumoniae in peripheral blood cells (OR, 1.90; 95% CI: 1.17 to 3.07). No significant association was found in serum anti-C.pneumonae IgM seropositivity or in-situ-detection of C.pneumoniae in arterial biopsies with CV disease. Subgroup analysis by available studies suggested that C.pneumoniae may paly a role in atherosclerotic stroke, but be less significant in stroke of cardioembolism or other etiologies. CONCLUSION: Association between C.pneumoniae infection and CV disease depends on the analytical method adopted, which seems stronger with stroke due to large artery atherosclerosis. Establishing a causal relationship between C.peumoniae infection and CV disease will require more prospective studies with combination of techniques and stratified by etiological subtypes.