GAD65抗体相关性小脑性共济失调一例报道及文献复习

目的探讨抗谷氨酸脱羧酶65(glutamic acid decarboxylase,GAD65)抗体相关性小脑性共济失调的临床表现、治疗及预后。方法报道一例抗GAD65抗体相关性小脑性共济失调患者的临床资料,进行诊断、鉴别诊断、治疗及预后分析。结果患者为中老年男性,急性起病,缓慢进展,主要表现为步态不稳并渐出现复视、不能独立行走;神经系统体检发现双眼上视受限、双侧跟膝胫试验及双手轮替试验欠稳准;血清及脑脊液抗GAD65抗体阳性;头颅MRI未见异常萎缩及责任病灶;大剂量甲强龙冲击后症状明显减轻。结论抗GAD65抗体相关性小脑性共济失调可有脑干及小脑受累症状,是一种可以治疗性疾病,早期诊断并积极治疗有望改善预后。     

中国脑血管病影像应用指南2019

影像技术在脑血管病诊疗和研究中的重要地位不言而喻。2016年中华医学会神经病学分会及其脑血管病学组发布了中国脑血管病影像应用指南。由于影像技术的迅猛发展以及临床应用的循证医学证据的不断涌现,旧版已经不能满足临床需要。在2019新版指南中,我们对大家已熟悉的应用领域进行了精简,重点介绍了CT和MRI应用的新领域以及一些新技术及其后处理的新方法,如脑出血血肿早期扩大的平扫CT征、高分辨血管壁MRI的应用、定量磁化率成像、血流动力学成像技术等,为临床和科研的应用提供有用的工具。     

Description of novel instrumented analysis of the Four Square Step Test with clinical application: A pilot study

BackgroundFalls are a common problem for adults in the United States raising concerns about injuries and the resulting economic burden. As a result, it is critical to develop objective measures to assess dynamic balance and the track progress related to interventions or disease progression over time.Research QuestionAre there differences in balance between individuals in the community, individuals post-stroke, persons with Multiple Sclerosis (MS), and individuals living with Parkinson’s Disease (PD) as measured with a new instrumented Four Square Step Test (i-FSST)?MethodsThe i-FSST was utilized to assess dynamic balance in 41 individuals (11 community dwelling adults and 10 individuals in each group of persons post stroke, with PD, and with MS). Outcome data including the overall duration of the FSST as well unique temporal-spatial stepping patterns through the test, timing of transitions between each quadrant, and the time in each quadrant prior to transitioning.ResultsOne-way ANOVAs were conducted to determine whether i-FSST duration, Over Double Support (ODS), and Changes in Main Support (CMS) differed by participants’ groups. There was a significant difference between groups in test Duration (F = 9.56, P = .000), ODS (F = 15.71, P = .001), and CMS (F = 7.03, P = .001). Further differences in these variables were found between various groups using Bonferroni post-hoc testing.SignificanceThe i-FSST is an innovative and potentially beneficial tool for quantitatively measuring the dynamics that occur in the traditional FSST including a general measure of dynamic balance as well as transition times and stability during the test. This technology can provide objective data on stability, weight shifting, and weight acceptance that may guide interventions and further assessment.     

Hormonal and Psychogenic Risk Factors for Erectile Dysfunction in Men with HTLV-1

IntroductionErectile dysfunction (ED) is associated with neurological damage due to human T-lymphotropic virus 1 (HTLV-1) infection, but hormonal and psychogenic factors also cause ED.AimTo evaluate the association of psychogenic and hormonal factors with ED in men infected with HTLV-1.MethodsIn this cross-sectional study, we compared total testosterone, follicle stimulating hormone, luteinizing hormone, prolactin, anxiety symptoms, depressive symptoms, and neurologic manifestations in HTLV-1-infected men with or without ED. The International Index of Erectile Function was used to determine the degree of ED. Participants were grouped according to Osame’s Motor Disability Scale and the Expanded Disability Status Scale: HTLV-1-associated myelopathy or tropical spastic paraparesis (HAM/TSP), probable HAM/TSP, or HTLV-1 carrier. Chi-square and Fisher’s exact tests were used to compare the groups, and regression analyses were used to show predictors of ED.Main Outcome MeasureSexual hormonal levels, psychogenic factors, and neurologic disabilities were found to be associated with ED.ResultsED was associated with age older than 60 years (P < .001), degree of neurologic involvement (P < .001), depression (P = .009), and anxiety (P = .008). In the multivariate analyses, only age and degree of neurological injury remained as risk factors for ED.Clinical ImplicationsNeurological manifestations are a stronger predictor of ED than hormonal and psychogenic factors in HTLV-1-infected men.Strengths & LimitationsThe statistical power of the study was limited due to the low number of participants, but neurologic manifestations were clearly associated with ED. There was no strong association between hormonal and psychogenic factors and ED.ConclusionHormonal and psychogenic factors did not show a strong association with ED in individuals with HTLV-1, but neurological manifestations were strongly associated with ED in these individuals.de Oliveira CJV, Neto, JAC, Andrade RCP, et al. Hormonal and Psychogenic Risk Factors for Erectile Dysfunction in Men with HTLV–1. J Sex Med 2019; 16:1763–1768.     

着色性干皮病两例ERCC2和ERCC5基因突变分析

【摘要】 目的 分析2例着色性干皮病患儿基因突变。方法 收集2例着色性干皮病患儿临床资料，提取患儿及其父母外周血DNA，采用高通量全外显子组测序方法对患儿进行全外显子组测序，确定致病基因突变位点，再用Sanger测序法对患儿及其父母的DNA进行双向验证，重点关注着色性干皮病相关候选基因XPA、ERCC3、XPC、ERCC2、DDB2、ERCC4、ERCC5及POLH的变异。结果 例1为3岁男孩，面、耳、颈、双手背散发褐色斑点伴色素减退斑2年，步态不稳1年，皮疹夏季加重，以光暴露部位为主。例2为1岁5月龄男孩，面部散发褐色斑点伴少许色素减退斑1年。基因检测显示，例1 ERCC2基因发生复合杂合突变，即父源c.1805G>A（p.Gly602Asp）和母源c.586C>T（p.Arg196Ter）突变，为XPD型。例2 ERCC5基因发生复合杂合突变，即父源c.2533+2T>C和母源c.2453C>T（p.Ala818Val）突变，为XPG型。c.586C>T（p.Arg196Ter）和c.2533+2T>C既往未见报道。嘱防晒、避光，随访2年，患儿皮损较前有所增多，未出现恶性肿瘤。结论 ERCC2基因复合杂合突变可导致XPD型着色性干皮病，表现出皮肤和神经症状；ERCC5基因复合杂合突变可导致XPG型着色性干皮病，表现为轻症表型。早期临床特点结合基因检测有助于着色性干皮病患者的准确诊断及分型。     

Brain magnetic resonance and cognitive function changes in maintenance hemodialysis patients

Objective To investigate cerebrovascular lesions on maintenance hemodialysis (MHD) patients, including types of cerebrovascular disease, and cognitive function changes. Methods A cross-sectional study was applied. A total of 270 MHD patients at hemodialysis center of Peking Union Medical College Hospital were screened, and finally 117 cases were enrolled. Demographic information, aboratory data, MRI and MRA data were collected and assessed. Cognitive function was evaluated with C - MMSE (Chinese mini mental test examination) and C - MoCA (Chinese montreal cognitive assessment). The related factors were selected by Spearman correlation analysis, multiple linear regression and logistic regression analysis. Results The patients’average age was (56.0± 12.5) years, average hemodialysis age was (73.5±60.8) months. Only 5.1% patients had clinical history of cerebral infarction or hemorrhage. Pre - hemodialysis blood pressure was (142.7/80.3±18.2/12.9) mmHg, Post-hemodialysis blood pressure was (130.2/79.1±23.4/14.9) mmHg. A total of 18.8% patients had intra-hemodialysis hypotension, spKt/V was (1.45±0.25). MR results showed that 12.0% patients had cerebral artery stenosis, 5.1% patients had cortical infarcts, 39.3% patients had lacunar infarcts, 47.0% patients had microbleeds, 7.7% patients had chronic hematoma, 52.1% patients had abnormal brain whiter matter lesions (WMLs). In cognitive function evaluation, 20.9% patients had abnormal C-MMSE scores, but 65.2% patients had abnormal C-MoCA results. Multiple linear regression showed age (b=0.059, P＜0.01), dialysis age (b=0.005, P＜0.05) were associated with WMLs in MHD patients. Intra-hemodialysis hypotension was an independent risk factor of lacunar infarcts (b=2.123, P＜0.01) and microbleeds (b=3.531, P＜0.01). Low serum albumin level was an independent risk factor of cognitive decline (b=0.314, P＜0.05). Logistic regression analysis showed pre - hemodialysis systolic blood pressure was an independent risk factor of cortical infarcts [OR=1.088, 95%CI (1.018-1.152), P＜ 0.05]. Gender, dialysis age and pre - dialysis serum TCO2 level were related with chronic hematoma. Conclusions WMLs is related with dialysis voltage. Lacunar infarcts and mirobleeds are related with intra - hemodialysis hypotension. Lacunar infarcts, WMLs and nutritional status are contributed to decline of cognition in MHD patients.     

Increased rate of parental postpartum depression and traumatization in moderate and late preterm infants is independent of the infant's motor repertoire

Background

Moderately and late preterm infants represent a considerable and increasing proportion of infants cared for in neonatal departments worldwide. Parents of preterm infants are at risk of postpartal depression (PPD) and posttraumatic stress disorder (PTSD), and preterm infants are at risk of developmental impairment.

Aim

This study aimed to assess (1) the incidence of parental PPD and PTSD in moderate to late preterm infants in comparison to full-term infants and (2) the influence of infants' motor repertoire assessed by Prechtl's general movements and illness severity on parental PPD and PTSD.

Subjects

We studied 60 mothers and 56 fathers of 69 preterm infants (born at 32 to 37 weeks of gestation) and 32 mothers and 29 fathers of 34 full-term infants.

Outcome measures

We assessed the incidence of parental PPD, PTSD and perceived social support as well as infants' illness severity and motor repertoire at birth, term and 3 months corrected age.

Results

Preterm mothers and fathers had significant higher depression scores after birth compared to full-term parents (p = 0.033 and 0.021). Preterm fathers also had higher traumatization scores compared to full-term fathers (p = 0.007). Probable or possible PPD/PTSD was not associated with infant's illness severity or quality of motor repertoire. No differences in motor development were found between preterm and full-term infants.

Conclusion

Moderate to late preterm infants' parents are at increased risk for PPD irrespective of infants' motor repertoire or illness severity.