目的 系统评估阻塞性睡眠呼吸暂停（OSA）与脑小血管病（CSVD）影像特征的关系，以期深入探索OSA在CSVD发生、发展中的潜在机制，并为优化临床管理策略提供新的科学依据。方法 收集自2021年5月—2023年10月期间入院的首发缺血性脑卒中合并CSVD的患者。完善头部MRI，评估CSVD影像学特征，并完善睡眠呼吸检测，计算OSA的特异性指标“低氧负荷（HB）”，并与传统指标对比，采用多因素Logistic回归分析研究这些缺氧指标与CSVD之间的关系，并绘制ROC曲线以比较缺氧指标与结局指标的相关性。结果 共纳入243例首发急性缺血性脑卒中患者，男性155例（63.8%），女性88例。多因素Logistic回归分析发现HB（OR=1.037，95%CI 1.020~1.055，P<0.001）和呼吸暂停低通气指数（AHI）（OR=1.044，95%CI 1.020~1.070，P<0.001）均与脑白质高信号（WMH）呈显著正相关。绘制ROC曲线结果显示，HB（AUC=0.722）与WMH的相关性优于AHI（AUC=0.670）。而睡眠期间血氧饱和度低于90%的时间总和（T90）、血氧饱和度下降指数（ODI）与WMH无关。OSA与扩大的血管周围间隙（EPVS）、脑微出血（CMB）、腔隙性脑梗死（LI）无相关性。结论 相较于传统评估指标，HB与WMH关联性更强，可作为OSA患者风险评估的更有效指标，为个体化干预提供精准依据。 Abstract Objective To systematically evaluate the association between obstructive sleep apnea （OSA） and the radiological features of cerebral small vessel disease （CSVD）， to investigate the potential mechanism of OSA in the development and progression of cerebrovascular diseases， and to provide a new scientific basis for optimizing clinical management strategies. Methods The patients with first-episode ischemic stroke and CSVD who were admitted from May 2021 to October 2023 were enrolled according to the inclusion and exclusion criteria. Cranial MRI was performed to evaluate the radiological features of CSVD， and sleep respiration testing was conducted to calculate hypoxic burden （HB）， a specific indicator for OSA， which was compared with traditional indicators. The multivariate logistic regression analysis was used to investigate the association between these hypoxic indicators and CSVD， and the receiver operating characteristic （ROC） curve was plotted to compare the correlation between hypoxic indicators and outcome measures. Results A total of 243 patients with first-episode acute ischemic stroke were enrolled in this study， among whom there were 155 male patients （63.8%） and 88 female patients. The multivariate logistic regression analysis showed that both HB OR=1.037， 95%CI 1.020-1.055， P<0.001） and apnea-hypopnea index （AHI）（OR=1.044， 95% CI 1.020-1.070， P<0.001） were significantly positively correlated with white matter hyperintensities （WMH）.The ROC curve analysis showed that the correlation between HB and WMH （AUC=0.722） was better than that between HB and AHI（AUC=0.670）. However， sleep time with oxygen saturation below 90% and oxygen desaturation index were not associated with WMH. OSA was not associated with enlarged perivascular spaces， cerebral microbleeds， or lacunar infarction. Conclusion Compared with traditional indicators， HB has a stronger correlation with WMH and can be used as a more effective indicator for risk assessment in OSA patients， thereby providing a precise basis for individualized intervention.

Patients with Parkinson disease （PD） can have hand and foot deformities called “striatal deformities”， which often occur in the middle and late stages of PD， but also in the early stage. The clinical manifestations of such deformity are similar to those of hand-foot deformity due to osteoarticular diseases， and some patients may have pain and discomfort； however， the low incidence rate and few reports of this disease may easily lead to misdiagnosis and mistreatment.
Parkinson Disease ; Levodopa

Objective:To investigate the clinical and genetic characteristics of families with myotonic dystrophy type I.Methods:Two families with myotonic dystrophy type I admitted to Department of Neurology, First Affiliated Hospital of He'nan University of Science and Technology in September and October 2021 were chosen; their clinical data were retrospectively analyzed. The muscle pathological changes were confirmed by electromyography and muscle MRI. Repeat-primed PCR assay was used to detect the number of CTG repeats in the 3' end non-coding region of DMPK gene. Results:Clinical heterogeneity existed among the two families of patients; muscle weakness and muscular atrophy of the skeletal muscle were the main clinical manifestations; limb weakness, axe face, percussion myotonia and myoglobular sign were noted; systemic multi-system symptoms included palpitation and chest tightness, cataracts, gastrointestinal symptoms, fatigue/lethargy, and cognitive impairment. Electromyography showed myotonic potential and myogenic damage. Muscle fatty infiltration and atrophy were noted in muscle MRI, and lesions were predominantly in the gastrocnemius. All patients had abnormal amplification of DMPK gene CTG (number of CTG repeats> 50 or 100). Conclusion:In addition to skeletal muscle involvement, systemic multi-system involvement such as cardiac, eye, respiratory, endocrine, and nervous system should also be noted by clinicians in patients with myotonic dystrophy type I.

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.

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.

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.

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.

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.