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Imaging of Glutamate Concentration in Sturge-Weber Syndrome Sturge-Weber综合征谷氨酸浓度的影像学研究
Pub Date : 2017-01-01 DOI: 10.15844/pedneurbriefs-31-1-2
Tracy S. Gertler, C. Stack
Investigators from Wayne State University studied a cohort of children with Sturge-Weber syndrome (SWS) and epilepsy using both glucose-based positron emission tomography (FDG-PET) to evaluate metabolic activity and proton magnetic resonance spectroscopic imaging (MRSI) to evaluate glutamate turnover.
韦恩州立大学的研究人员研究了一组患有Sturge-Weber综合征(SWS)和癫痫的儿童,他们使用基于葡萄糖的正电子发射断层扫描(FDG-PET)来评估代谢活性,并使用质子磁共振波谱成像(MRSI)来评估谷氨酸盐转换。
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引用次数: 2
Neurocognitive Functions and Behavior in Joubert Syndrome Joubert综合征的神经认知功能和行为
Pub Date : 2016-12-01 DOI: 10.15844/pedneurbriefs-30-12-3
A. Poretti, Gwendolyn J. Gerner
Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.
来自意大利多个儿科神经病学和神经遗传学部门的研究人员对54例Joubert综合征(JS)患者的认知功能、行为和适应功能进行了研究,作为一项前瞻性多中心研究的一部分。
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引用次数: 3
Similar Risk Patterns After Cervical Screening in Two Large U.S. Populations: Implications for Clinical Guidelines. 美国两大人群宫颈筛查后的相似风险模式:对临床指南的影响。
Pub Date : 2016-12-01 DOI: 10.1097/AOG.0000000000001721
Julia C Gage, William C Hunt, Mark Schiffman, Hormuzd A Katki, Li A Cheung, Orrin Myers, Jack Cuzick, Nicolas Wentzensen, Walter Kinney, Philip E Castle, Cosette M Wheeler

Objective: To compare the risks of histologic high-grade cervical intraepithelial neoplasia (CIN) or worse after different cervical cancer screening test results between two of the largest U.S. clinical practice research data sets.

Methods: The New Mexico Human Papillomavirus (HPV) Pap Registry is a statewide registry representing a diverse population experiencing varied clinical practice delivery. Kaiser Permanente Northern California is a large integrated health care delivery system practicing routine HPV cotesting since 2003. In this retrospective cohort study, a logistic-Weibull survival model was used to estimate and compare the cumulative 3- and 5-year risks of histologic CIN 3 or worse among women aged 21-64 years screened in 2007-2011 in the New Mexico HPV Pap Registry and 2003-2013 in Kaiser Permanente Northern California. Results were stratified by age and baseline screening result: negative cytology, atypical squamous cells of undetermined significance (ASC-US) (with or without HPV triage), low-grade squamous intraepithelial lesion, and high-grade squamous intraepithelial lesion.

Results: There were 453,618 women in the New Mexico HPV Pap Registry and 1,307,528 women at Kaiser Permanente Northern California. The 5-year CIN 3 or worse risks were similar within screening results across populations: cytology negative (0.52% and 0.30%, respectively, P<.001), HPV-negative and ASC-US (0.72% and 0.49%, respectively, P=.5), ASC-US (3.4% and 3.4%, respectively, P=.8), HPV-positive and ASC-US (7.7% and 7.1%, respectively, P=.3), low-grade squamous intraepithelial lesion (6.5% and 5.4%, respectively, P=.009), and high-grade squamous intraepithelial lesion (53.1% and 50.4%, respectively, P=.2). Cervical intraepithelial neoplasia grade 2 or worse risks and 3-year risks had similar trends across populations. Age-stratified analyses showed more variability, especially among women aged younger than 30 years, but patterns of risk stratification were comparable.

Conclusion: Current U.S. cervical screening and management recommendations are based on comparative risks of histologic high-grade CIN after screening test results. The similar results from these two large cohorts from different real-life clinical practice settings support risk-based management thresholds across U.S. clinical populations and practice settings.

目的:比较美国两个最大的临床实践研究数据集在得出不同的宫颈癌筛查检测结果后发生组织学高级别宫颈上皮内瘤变(CIN)或更严重的风险:新墨西哥州人类乳头状瘤病毒(HPV)巴氏试验登记处是一个全州范围的登记处,代表了经历不同临床实践的不同人群。北加州凯撒医疗保健公司是一家大型综合医疗保健服务系统,自 2003 年起开始进行常规 HPV 联合检测。在这项回顾性队列研究中,我们采用了Logistic-Weibull生存模型来估算和比较2007-2011年在新墨西哥州HPV巴氏涂片注册中心和2003-2013年在北加州Kaiser Permanente接受筛查的21-64岁女性中组织学CIN 3或更严重的3年和5年累积风险。结果按年龄和基线筛查结果分层:细胞学阴性、意义未定的非典型鳞状细胞(ASC-US)(有或没有HPV分流)、低级别鳞状上皮内病变和高级别鳞状上皮内病变:新墨西哥州 HPV 帕片登记处有 453,618 名妇女,北加州凯撒医疗中心有 1,307,528 名妇女。在不同人群的筛查结果中,5 年 CIN 3 或更严重的风险相似:细胞学阴性(分别为 0.52% 和 0.30%)和 PConclusion:美国目前的宫颈筛查和管理建议是基于筛查检测结果后组织学高级别 CIN 的比较风险。这两个来自不同临床实践环境的大型队列得出的相似结果支持美国临床人群和实践环境中基于风险的管理阈值。
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引用次数: 0
Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants 由BRAT1致病变异引起的癫痫性脑病
Pub Date : 2016-12-01 DOI: 10.15844/pedneurbriefs-30-12-1
S. Srivastava, S. Naidu
Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.
来自德国医学遗传研究所和人类遗传研究所的研究人员强调了复合杂合BRAT1变异在两个德国兄弟中的作用,这两个兄弟具有不同的顽固性癫痫、发育不良、出生后小头畸形、高张力、呼吸暂停和婴儿/儿童死亡。
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引用次数: 4
Ocular Manifestation of CACNA1A Pathogenic Variants CACNA1A致病变异的眼部表现
Pub Date : 2016-12-01 DOI: 10.15844/pedneurbriefs-30-12-2
K. Reinson, K. Õunap
Investigators from The Children’s Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney Children’s Hospital in New South Wales and Laboratoire de Genetique in Paris investigated children with a proven heterozygous missense pathogenic variant in the CACNA1A gene.
新南威尔士州韦斯特米德儿童医院的调查人员;布里斯班的昆士兰科技大学;新南威尔士州的悉尼儿童医院和巴黎的遗传实验室调查了携带CACNA1A基因杂合错义致病变异的儿童。
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引用次数: 0
Biomarkers of Inflammation in Pediatric Arterial Ischemic Stroke 儿童动脉缺血性卒中炎症的生物标志物
Pub Date : 2016-11-01 DOI: 10.15844/pedneurbriefs-30-11-1
M. Dunbar, A. Mineyko
Investigators from Switzerland studied inflammatory markers in children and neonates with acute arterial ischemic stroke (AIS).
来自瑞士的研究人员研究了急性动脉缺血性卒中(AIS)儿童和新生儿的炎症标志物。
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引用次数: 1
Crouch Gait in Dravet Syndrome 屈腿综合征的蹲伏步态
Pub Date : 2016-11-01 DOI: 10.15844/pedneurbriefs-30-11-2
L. Black, D. Gaebler-Spira
Investigators from Necker Enfants Malades Hospital, Sorbonne Paris Cite University, Raymond Poincare University, and Paris Descartes University studied motor neuron function in children with Dravet syndrome (DS).
来自Necker Enfants Malades医院、巴黎索邦大学、雷蒙德庞加莱大学和巴黎笛卡尔大学的研究人员研究了Dravet综合征(DS)儿童的运动神经元功能。
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引用次数: 3
Predicting and Preventing Epilepsy in Sturge-Weber Syndrome? 预测和预防斯特奇-韦伯综合征的癫痫?
Pub Date : 2016-11-01 DOI: 10.15844/pedneurbriefs-30-11-3
C. Juhász
Investigators from the University of Montreal studied potential predictors of epilepsy in young patients with Sturge-Weber syndrome (SWS).
蒙特利尔大学的研究人员研究了年轻斯特奇-韦伯综合征(SWS)患者癫痫的潜在预测因素。
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引用次数: 1
Pediatric Intracranial Hypertension 小儿颅内高压
Pub Date : 2016-10-01 DOI: 10.15844/pedneurbriefs-30-10-2
L. Sivaswamy
Investigators from the Ohio State University, Oregon Health and Science University and Rosalind Franklin School of Medicine examined the presenting manifestations, demographics and treatment strategies in children enrolled in the Intracranial Hypertension Registry (IHR).
来自俄亥俄州立大学、俄勒冈健康与科学大学和罗莎琳德富兰克林医学院的研究人员检查了颅内高血压登记处(IHR)登记的儿童的表现、人口统计学和治疗策略。
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引用次数: 3
The Burden of Pediatric Encephalitis in the United States 美国儿童脑炎的负担
Pub Date : 2016-10-01 DOI: 10.15844/pedneurbriefs-30-10-1
L. Mithal
Investigators from the University of Maryland, University of Colorado, and Arkansas Children’s Hospital studied the epidemiology, management and resource utilization of children admitted to hospitals in the United States with encephalitis.
来自马里兰大学、科罗拉多大学和阿肯色儿童医院的研究人员研究了美国脑炎入院儿童的流行病学、管理和资源利用。
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引用次数: 1
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Pediatric Neurology Briefs
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