ABSTRACT
Objective:To investigate the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma by a pedigree study of this disease.Methods:A family of cerebral cavernous hemangioma who was admitted to the Department of Neurology of the First Affiliated Hospital of Henan University of Science and Technology in April 2019 was diagnosed as cerebral cavernous hemangioma type 1 based on clinical manifestations and head magnetic resonance imaging (MRI), diffusion weighted imaging and susceptibility weighted imaging screening. According to Zabramski classification criteria, the family′s clinical data were collected and genes were sequenced.Results:A 58-year-old female proband had dizziness and headache as the main symptoms, her daughter and son had no clinical symptoms, and her granddaughter had clinical manifestations of cerebral hemorrhage and seizures. The proband and her family members showed multiple cavernous hemangioma on cranial MRI,and the p.L436fs mutation in the KRIT1 gene of familial cerebral cavernous malformation type 1 was confirmed through genetic examination, which was consistent with the Zabramski typing results based on head MRI. The mutation site of the familial spongiform malformation type 1 pathogenic gene was found to be p.L436fs in KRIT1 gene, which has not been reported in familial cerebral cavernous hemangioma type 1 until now.Conclusion:A new p.L436fs mutation of KRIT1 gene was found in familial cerebral cavernous malformation type 1, which expands understanding of the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma.
ABSTRACT
Objective To systematically evaluate the diagnostic accuracy and clinical applicability of recognition of stroke in the emergency room (ROSIER) scale by systematic review and Meta-analysis. Methods The Chinese and English literatures concerning the diagnostic accuracy of ROSIER published from January 1st 2005 to December 31st 2018 by PubMed, Embase, Wanfang, VIP and CNKI databases were searched comprehensively and systematically. The sensitivity, specificity, and diagnostic odds ratio (DOR) of ROSIER in total population and subgroup analysis were pooled by using bivariate mixed effects model. Sensitivity analysis was used to evaluate the stability of the results. Deek funnel plot was utilized to evaluate publication bias. The clinical applicability of ROSIER was evaluated by Fagan Nomogram. Results A total of 28 studies incorporating 7 579 subjects were enrolled in this Meta-analysis. Meta-analysis in total population showed that the pooled sensitivity, specificity and DOR of ROSIER was 0.89 [95% confidence interval (95%CI) = 0.86-0.91, P = 0.00], 0.74 (95%CI = 0.67-0.80, P = 0.00) and 22.09 (95%CI =14.86-32.82, P = 0.00), respectively. Subgroup analysis of pooled sensitivity of ROSIER showed that Asian patients was significantly higher than European patients [0.89 (95%CI = 0.86-0.92) vs. 0.74 (95%CI = 0.66-0.82), P < 0.01], prospective study was significantly higher than retrospective study [0.89 (95%CI = 0.87-0.92) vs. 0.74 (95%CI = 0.61-0.88), P < 0.05], pre-hospital emergency was significantly higher than emergency department [0.87 (95%CI = 0.80-0.94) vs. 0.85 (95%CI = 0.81-0.90), P < 0.01], study with sample size ≤ 200 was significantly higher than study with sample size > 200 [0.88 (95%CI = 0.83-0.93) vs. 0.82 (95%CI = 0.76-0.88), P < 0.05], but there was no significant difference between different evaluators or different male to female ratio subgroups. Subgroup analysis of pooled specificity of ROSIER showed that European patients was significantly higher than Asian patients [0.81 (95%CI = 0.73-0.89) vs. 0.79 (95%CI = 0.73-0.85), P < 0.05], retrospective study was significantly higher than prospective study [0.88 (95%CI =0.78-0.97) vs. 0.79 (95%CI = 0.73-0.84), P < 0.05], pre-hospital emergency was significantly higher than emergency department [0.82 (95%CI = 0.73-0.91) vs. 0.79 (95%CI = 0.73-0.85), P < 0.01], emergency physicians was significantly higher than other medical workers [0.80 (95%CI = 0.74-0.86) vs. 0.79 (95%CI = 0.69-0.90), P < 0.05], study with sample size ≤ 200 was significantly higher than study with sample size > 200 [0.82 (95%CI = 0.76-0.89) vs. 0.78 (95%CI = 0.71-0.85), P < 0.05], but there was no significant difference between different male or female ratio subgroups. Sensitivity analysis showed that there was no significant change in pooled DOR before and after excluding each study, indicating that the results were stable. Funnel plot showed that there was a significant publication bias in the total population (P = 0.04), but there was no publication bias in the European population (P = 0.57) or the Asian population (P = 0.08). According to the results of the Fagan Nomogram, with the pretest probability of 50%, when ROSIER was positive, the probability of being diagnosed with stroke increased to 77%, and when ROSIER was negative, the probability of being diagnosed with non-stroke decreased to 13%. It was suggested that ROSIER had good applicability and high clinical diagnostic value. Conclusions ROSIER has high diagnostic sensitivity and specificity, and has high clinical diagnostic value. It is a valid stroke identification tool which can be widely used in Asian population, pre-hospital emergency and be utilized by trained medical worker.
ABSTRACT
Objective To explore the effect of different hyperbaric oxygen treatment (HBOT) on delayed neuropsychiatric sequelae followed carbon monoxide (CO) poisoning (DNS).Methods Patients diagnosed acute carbon monoxide poisoning (ACOP) or DNS due to CO poisoning in the hospital from October 2015 to October 2016 were included.Patients who died of ACOP or in persisting unconsciousness condition were excluded.Information of the patients were retrospectively collected including personal data,clinical features and treatment course of hyperbaric oxygen (HBO).All subjects were divided into two groups,consisting of cases who developed into DNS and who fully recovered,according toclinical symptoms.The differences of personal data,clinical features and treatment course of HBO were compared between the two groups.After adjusting the confounding factors,hyperbaric oxygen treatment program of the two groups were analyzed.Results DNS occurred in 39 patients with acute CO poisoning,while 130 patients were fully recovery.The ratio of patients over 55 years old or with smoking history in the DNS group were higher than that in the good outcome group (82.1％ vs.60.8％,23.1％ vs.10.8％).Patients who awoke from unconsciousness but left cognitive impairment were more likely to develop into DNS (P=0.017).Patients who treated with HBO within the first 24 hours,risk of developing into DNS were decreased(OR=0.14,P＜0.01).At the same time,2 times per day and within the first 24 hours worked also as well.(OR=0.29,P=0.011).Even if patients who were given 2 times a day of HBO but not in the first 24 hours after poisoning,could not reduce the risk of evolving to DNS(OR=0.06,P＞0.05);The proportion of patients in the good outcome group accepted HBO for more than six days after poisoning was higher than that in the DNS group (68.5％ vs.48.7％).After adjusting confounding factors,patients who treated with HBO within the first 24 hours (OR=0.22,95％CI:0.09-0.52),2 times per day(OR=0.30,95％CI:0.10-0.87)and lasted for more than 6 days(OR=0.30,95％CI:0.10-0.87)were in a lower risk of involving to DNS.Conclusions For patients diagnosed ACOP,HBOT began in the first 24 hours,1 or 2 times per day or early sustaining to give HBO for more than 6 days could reduce the risk of DNS.
ABSTRACT
Objective To study the effect of transcranial ultrasound (US) on arterial recanalization in acute ischemic stroke patients.Methods Patients with acute middle cerebral artery (MCA) main stem occlusion after 6 h were randomized into a target group receiving low-frequency,pulse-wave mode,transcranial US for 30 min or a control group.All were treated with intravenous urokinase for thrombolysis.Transcranial doppler sonography (TCD) was used to document vascular occlusion and confirm recanalization at 2 h and 24 h after treatment,and the patients were evaluated using the National Institutes of Health Stroke Scale ( NIHSS).Results Recanilization (complete or partial) after 2 hours was significantly higher in the US group (44.4％) compared with the control group ( 10.5％ ).Recanalization had occurred in 50％ of the US group 24 hours after treatment compared with 15.7％ of the controls.At 2 h after treatment,33.3％ of the US group and 5.5％ of the controls had improved at least 4 points on the NIHSS assessment.After 24 hours the figures were 44.4％ and 10.5％.After 3 months,11 subjects from US group (61.1％ ) had a modified Rankin score ≤2 compared with 4 subjects (21％) from the control group.Conclusions In acute ischemic stroke,transcranial US has positive effects on recanalization and neural function.
ABSTRACT
Objective To explore the ultrasound characteristics of carotid atherosclerosis in acute stroke patients with early neurological deterioration (END). Methods END was defined as a increase by at least two points in the National Institutes of Health Stroke Scale between admission and day 7. Among 128 patients with acute stroke in whom carotid ultrasound examinations were performed within 24 hours after admission, 38 patients with END and 40risk-matched patients without END were included in the END group and the non-END group,respectively. The ultrasound characteristics of carotid atherosclerosis were compared in both groups. Results Plaque score (16.7 ±4.4 mm vs. 13.3 ±3.5 mm, t=2.673, P=0.009),intima-media cross-sectional area (26. 4 ± 8. 5 mm2 vs. 20. 5 ± 6. 8 mm2, t = 3. 394, P =0. 001), arterial stiffness index (28. 94 ±4. 29 vs. 21. 22 ±5. 85, t = 6. 618, P =0. 000), and the rates of unstable plaque (66. 7% υs. 43. 3%, χ2=9. 164, P =0. 003), eccentric plaque (62. 8% vs. 45. 6%, χ2=5. 008, P =0. 025), stenosis ≥50% (71. 1% vs. 37. 5%, χ2=8. 828, P =0. 003), and negative remodeling (28. 9% vs. 7. 5%, χ2=6.087, P =0.014) in the END group were significantly higher than those in the non-END group, while the distensibility coefficient ([14. 74 ±8. 66]×10-6/P υs. [19. 16 ±9.35] × 10-6/Pa, t =2. 163, P=0. 034)and compliance coefficient ([0.49 ±0. 13] × 10-4 mm2/Pa υs. [0. 58 ±0. 11] × 10-4 mm2/Pa,t =3.307, P =0. 001) were significantly lower than those in the non-END group. Conclusions The ultrasound characteristics such as plaque score, intima-media cross-sectional area, arterial stiffness index, unstable plaque, eccentric plaque, stenosis ≥ 50%, negative remodeling,distensibility and compliance may be useful to predict END in patients with acute stroke.