bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan
Authors: Ikeda Azusa , Kumaki Tatsuro , Tsuyusaki Yu , Tsuji Megumi , Enomoto Yumi , Fujita Atsushi , Saitsu Hirotomo , Matsumoto Naomichi , Kurosawa Kenji , Goto Tomohide 
Published: May 2023

Background and purposeHereditary spastic paraplegias (HSPs) are a set of heterogeneous neurodegenerative disorders characterized by bilateral lower limb spasticity. They may present from infancy onwards at any time. Although next-generation sequencing has allowed the identification of many causative genes, little is known about which genes are specifically associated with pediatric-onset variants.MethodsThis study retrospectively evaluated the genetic analyses, family history clinical courses, magnetic resonance imaging (MRI) findings, and electrophysiologic findings of patients diagnosed with HSP in childhood at a tertiary pediatric hospital in Japan. Genetic analyses were performed using direct sequencing, disease-associated panels, and whole-exome sequencing.ResultsOf the 37 patients included, 14 had a family history of HSP and 23 had a sporadic form of the disease. In 20 patients, HSP was the pure type, whereas the remaining 17 patients had complex types of HSP. Genetic data were available for 11 of the pure-type patients and 16 of those with complex types. Of these, genetic diagnoses were possible in 5 (45%) of the pure-type and 13 (81%) of the complex-type patients. SPAST variants were found in five children, KIF1A variants in four, ALS2 variants in three, SACS and L1CAM variants in two each, and an ATL1 variant in one. One child had a 10p15.3p13 duplication. Four patients with pure-type HSPs had SPAST variants and one had an ALT1 variant. The KIF1A, ALS2, SACS, and L1CAM variants and the 10p15.3p13 duplication were seen in children with complex-type HSPs, with just one complex-type patient having a SPAST variant. The identification of brain abnormalities on MRI was significantly more common among children with complex-type (11 [69%] of 16) than pure-type HSPs (one [5%] of 19) (p &lt; 0.001). Scores on the modified Rankin Scale for Neurologic Disability were also significantly higher among children with complex-type compared with pure-type HSPs (3.5 ± 1.0 vs. 2.1 ± 0.9, p &lt; 0.001).ConclusionPediatric-onset HSP was found to be sporadic and genetic in a substantial proportion of patients. The causative gene patterns differed between children with pure-type and complex-type HSPs. The causative roles of SPAST and KIF1A variants in pure-type and complex-type HSPs, respectively, should be explored further.
Associations of plaque morphology and location with Intraplaque neovascularization in the carotid artery by contrast-enhanced ultrasound imaging
Authors: Gu Shi-Yao , Zhang Lu-Ni , Chen Jing , Li Fang , Yao Ming-Hua , Jia Cai-Xia , Wu Rong 
Published: May 2023

ObjectiveIntraplaque neovascularization (IPN) is a known indicator of plaque vulnerability, and is thus considered a predictor of stroke. The morphology and location of the carotid plaque may be correlated with plaque vulnerability. Therefore, our study aimed to examine the associations of carotid plaque morphology and location with IPN.MethodsA total of 141 patients with carotid atherosclerosis (mean age, 64.99 ± 10.96 years) who underwent carotid contrast-enhanced ultrasound (CEUS) between November 2021 and March 2022 were retrospectively analyzed. IPN was graded according to the presence and location of microbubbles within the plaque. The association of IPN grade with carotid plaque morphology and location was evaluated using ordered logistic regression.ResultsOf the 171 plaques, 89 (52%) were IPN Grade 0, 21 (12.2%) were Grade 1, and 61 (35.6%) were Grade 2. IPN grade significantly associated with both plaque morphology and location, with higher grades observed among Type III morphology and common carotid artery plaques. Significant negative association was further shown between IPN grade and serum high-density lipoprotein cholesterol (HDL-C) level. Plaque morphology and location, and HDL-C remained significantly associated with IPN grade after adjusting for confounding factors.ConclusionThe location and morphology of carotid plaques were significantly associated with the IPN grade on CEUS, and therefore show potential as biomarkers for plaque vulnerability. Serum HDL-C was also identified as a protective factor against IPN, and may play a role in the management of carotid atherosclerosis. Our study provided a potential strategy for identification of vulnerable carotid plaques and elucidated the important imaging predictors of stroke.
The efficacy of stereotactic minimally invasive thrombolysis at different catheter positions in the treatment of small- and medium-volume basal ganglia hemorrhage (SMITDCP I): a randomized, controlled, and blinded endpoint phase 1 trial
Authors: Huang Xin , Yan Ziwei , Jiang Lai , Chen Shaojun , Liu Yifei 
Published: May 2023

ObjectiveThe aim of this study was to evaluate the effects of stereotactic minimally invasive puncture with different catheter placement positions when combined with urokinase thrombolysis for the treatment of small- and medium-volume basal ganglia hemorrhage. Our goal was to identify the best minimally invasive catheter placement position to enhance therapeutic efficacy for patients with cerebral hemorrhage.MethodsThe stereotactic minimally invasive thrombolysis at different catheter positions in the treatment of small- and medium-volume basal ganglia hemorrhage (SMITDCPI) was a randomized, controlled, and endpoint phase 1 trial. We recruited patients with spontaneous ganglia hemorrhage (medium-to-small and medium volume) who were treated in our hospital. All patients received stereotactic, minimally invasive punctures combined with an intracavitary thrombolytic injection of urokinase hematoma. A randomized number table method was used to divide the patients into two groups concerning the location of catheterization: a penetrating hematoma long-axis group and a hematoma center group. The general conditions of the two groups of patients were compared, and the data were analyzed, including the time of catheterization, the dosage of urokinase, the amount of residual hematoma, the hematoma clearance rate, complications, and the National Institute of Health stroke scale (NIHSS) score data at 1 month after surgery.ResultsBetween June 2019 and March 2022, 83 patients were randomly recruited and assigned to the two groups as follows: 42 cases (50.60%) to the penetrating hematoma long-axis group and 41 cases (49.40%) to the hematoma center group. Compared with the hematoma center group, the long-axis group was associated with a significantly shorter catheterization time, a lower urokinase dose, a lower residual hematoma volume, a higher hematoma clearance rate, and fewer complications (P &lt; 0.05). However, there were no significant differences between the two groups in terms of the NIHSS scores when tested 1 month after surgery (P &gt; 0.05).ConclusionStereotactic minimally invasive puncture combined with urokinase for the treatment of small- and medium-volume hemorrhage in the basal ganglia, including catheterization through the long axis of the hematoma, led to significantly better drainage effects and fewer complications. However, there was no significant difference in short-term NIHSS scores between the two types of catheterization.
Association between general anesthesia and contrast-induced encephalopathy after endovascular treatment on neurovascular diseases
Authors: Zhong Zhihong , Ni Hongyang , Zhu Jun , Jiang Hong , Hu Jinqing , Lin Dong , Bian Liuguan 
Published: May 2023

ObjectiveContrast-induced encephalopathy (CIE) is a rare neurological complication that can occur in the context of various endovascular procedures. Although many potential risk factors for CIE have been reported, it is still unclear whether anesthesia is a risk factor for the occurrence of CIE. The goal of this study was to investigate the incidence of CIE in patients who underwent endovascular treatment under different anesthesia methods and anesthetics administration and to explore whether general anesthesia was a potential risk factor for CIE.MethodsWe retrospectively reviewed available clinical data from 1,043 patients with neurovascular diseases undergoing endovascular treatment between June 2018 and June 2021 in our hospital. A propensity score-based matching strategy and logistic regression were used to analyze the association between anesthesia and the occurrence of CIE.ResultsIn this study, we implemented the embolization of intracranial aneurysm in 412 patients, stent implantation of extracranial artery stenosis in 346, stent implantation of intracranial artery stenosis in 187, embolization of cerebral arteriovenous malformation or dural arteriovenous fistula in 54, endovascular thrombectomy in 20, and other endovascular treatments in 24. A total of 370 patients (35.5%) received treatment under local anesthesia, while the remaining 673 (64.5%) underwent treatment under general anesthesia. In total, 14 patients were identified as CIE, resulting in a total incidence rate of 1.34%. After propensity score-based matching of anesthesia methods, the occurrence of CIE was significantly different between the general anesthesia and local anesthesia group (P = 0.007). After propensity score-based matching of CIE, the anesthesia methods were significantly different between the two groups. Pearson contingency coefficients and logistic regression showed a significant correlation between general anesthesia and the risk of CIE.ConclusionGeneral anesthesia might be a risk factor for CIE, and propofol might be associated with the increased occurrence of CIE.
Increased glymphatic system activity in patients with mild traumatic brain injury
Authors: Dai Zhuozhi , Yang Zhiqi , Li Zhaolin , Li Mu , Sun Hongfu , Zhuang Zerui , Yang Weichao , Hu Zehuan , Chen Xiaofeng , Lin Daiying , Wu Xianheng 
Published: May 2023

PurposeThis study aims to investigate the glymphatic system activity changes in patients with mild traumatic brain injury (mTBI), particularly in MRI-negative patients, using analysis along the perivascular space (ALPS) technology.MethodsA total of 161 mTBI patients (age: 15–92 years old) and 28 healthy controls (age: 15–84 years old) were included in this retrospective study. The mTBI patients were divided into MRI-negative and MRI-positive groups. ALPS index was calculated automatically using whole-brain T1-MPRAGE imaging and diffusion tensor imaging. The Student's t and chi-squared tests were performed to compare the ALPS index, age, gender, course of disease, and Glasgow Coma Scale (GCS) score between groups. Correlations among ALPS index, age, course of disease and GCS score were computed using Spearman's correlation analysis.ResultsIncreased activity of the glymphatic system was suggested in mTBI patients based on ALPS index analysis, including the MRI-negative patients. There was a significant negative correlation between the ALPS index and age. In addition, a weak positive correlation between the ALPS index and course of disease was also observed. On the contrary, there was no significant correlation between the ALPS index and sex nor between the ALPS index and GCS score.ConclusionOur study demonstrated that the activity level of the glymphatic system was enhanced in mTBI patients, even when their brain MRI scans were negative. These findings may provide novel insights for understanding the pathophysiology of mild TBI.
Exploring the self-efficacy and self-care-based stroke care model for risk factor modification in mild-to-moderate stroke patients
Authors: Rasyid Al , Pemila Uke , Aisah Siti , Harris Salim , Wiyarta Elvan , Fisher Marc 
Published: May 2023

ContextThe worldwide burden of stroke is projected to grow unless proper stroke education is implemented. Information alone cannot promote patient self-efficacy and self-care and reduce risk factors.AimThis trial aimed to test self-efficacy and self-care-based stroke education (SSE) on changes in self-efficacy, self-care, and risk factor modification.Design, setting, and participantsThis study is a single-center, double-blinded, interventional, two-arm randomized controlled trial with a 1- and 3-month follow-up in Indonesia. Between January 2022 and October 2022, 120 patients were prospectively enrolled from Cipto Mangunkusumo National Hospital, Indonesia. Participants were assigned using a computer-generated random number list.InterventionSSE was given before discharge from the hospital.Primary outcome measureSelf-care, self-efficacy, and stroke risk score was measured 1 month and 3 months after discharge.Secondary outcome measureModified Rankin Scale, Barthel Index, and blood viscosity was measured at 1 month and 3 months after discharge.ResultsA total of 120 patients (intervention n = 60; standard care n = 60) were randomized. In the 1st month, the intervention group showed a more significant change in self-care (4.56 [95% CI: 0.57, 8.56]), self-efficacy (4.95 [95% CI: 0.84, 9.06]), and stroke risk (−2.33 [95% CI:−3.19, −1.47]) compared to the controlled group. In the 3rd month, the intervention group also showed a more significant change in self-care (19.28 [95% CI: 16.01, 22.56]), self-efficacy (19.95 [95% CI: 16.61, 23.28]), and stroke risk (−3.83 [95% CI: −4.65, −3.01]) compared to the controlled group.ConclusionSSE may boost self-care and self-efficacy, adjust risk factors, enhance functional outcomes, and decrease blood viscosity.Clinical trial registrationISRCTN11495822.
Effect of Tai Chi Yunshou training on the balance and motor functions of stroke patients: a systematic review and meta-analysis of randomized controlled trials
Authors: Zhang Liying , Zhang Lijuan , Yu Xiaoming , Zhou Huanxia , Ding Yuwu , Wang Jiening 
Published: May 2023

BackgroundThere is insufficient evidence on the effect of Tai Chi Yunshou on improving balance and motor function in stroke survivors. Therefore, this systematic review and meta-analysis aimed to evaluate the effect of Tai Chi Yunshou on improving balance and motor function in stroke patients through a comprehensive literature search.MethodsEnglish and Chinese databases were searched from inception to February 10, 2023, to collect randomized controlled trials (RCTs) investigating the effects of Tai Chi Yunshou on balance and motor function in stroke survivors. Two reviewers independently selected studies meeting eligibility criteria, extracted required data, and assessed the risk of bias using methods recommended by the Cochrane Reviewers’ Handbook. Primary outcomes were balance function and motor function, while secondary outcomes included walking gait and activities of daily living. Review Manager software (version 5.4.1) was used for data analysis.ResultsAmong the 1,400 identified records, 12 eligible randomized controlled trials were finally included, with a total of 966 subjects. The results of the meta-analysis showed that the balance function of the experimental group and the control group was assessed using the Berg Balance Scale (MD = 4.87, p &lt; 0.001, I2 = 90, 95% CI = 4.46–5.28). The motor function assessment of the experimental group and the control group used the Fugl-Meyer Motor Assessment (SMD = 1.11, p &lt; 0.001, I2 = 94, 95% CI = 0.94–1.28) and Simple Test of Extremity Function (MD = 10.28, p &lt; 0.001, I2 = 0, 95% CI = 7.89–12.68). Walking ability was measured using the Time-Up and Go Test (MD = −3.22, p &lt; 0.001, I2 = 83, 95% CI = −3.71–−2.73). Activities of daily living were measured using the Modified Bathel Index (MD = 4.61, p &lt; 0.001, I2 = 81, 95% CI = 3.61–5.61).ConclusionInitial evidence seems to show that Tai Chi Yunshou training can improve the balance and motor function of stroke survivors and further improve walking ability and daily living ability, and the rehabilitation effect may be better than that of conventional rehabilitation training.Systematic Review Registrationhttps://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=376969, identifier [CRD42022376969].
Chronic motor performance following different traumatic brain injury severity—A systematic review
Authors: Corrigan Frances , Wee Ing Chee , Collins-Praino Lyndsey E. 
Published: May 2023

IntroductionTraumatic brain injury (TBI) is now known to be a chronic disease, causing ongoing neurodegeneration and linked to increased risk of neurodegenerative motor diseases, such as Parkinson's disease and amyotrophic lateral sclerosis. While the presentation of motor deficits acutely following traumatic brain injury is well-documented, however, less is known about how these evolve in the long-term post-injury, or how the initial severity of injury affects these outcomes. The purpose of this review, therefore, was to examine objective assessment of chronic motor impairment across the spectrum of TBI in both preclinical and clinical models.MethodsPubMed, Embase, Scopus, and PsycINFO databases were searched with a search strategy containing key search terms for TBI and motor function. Original research articles reporting chronic motor outcomes with a clearly defined TBI severity (mild, repeated mild, moderate, moderate–severe, and severe) in an adult population were included.ResultsA total of 97 studies met the inclusion criteria, incorporating 62 preclinical and 35 clinical studies. Motor domains examined included neuroscore, gait, fine-motor, balance, and locomotion for preclinical studies and neuroscore, fine-motor, posture, and gait for clinical studies. There was little consensus among the articles presented, with extensive differences both in assessment methodology of the tests and parameters reported. In general, an effect of severity was seen, with more severe injury leading to persistent motor deficits, although subtle fine motor deficits were also seen clinically following repeated injury. Only six clinical studies investigated motor outcomes beyond 10 years post-injury and two preclinical studies to 18–24 months post-injury, and, as such, the interaction between a previous TBI and aging on motor performance is yet to be comprehensively examined.ConclusionFurther research is required to establish standardized motor assessment procedures to fully characterize chronic motor impairment across the spectrum of TBI with comprehensive outcomes and consistent protocols. Longitudinal studies investigating the same cohort over time are also a key for understanding the interaction between TBI and aging. This is particularly critical, given the risk of neurodegenerative motor disease development following TBI.
Noninvasive vagus nerve stimulation for migraine: a systematic review and meta-analysis of randomized controlled trials
Authors: Song Dong , Li Piaoyi , Wang Yonggang , Cao Jin 
Published: May 2023

BackgroundMedication is commonly used to treat migraine. However, patients may experience adverse events or fail to respond to medication. In recent years, neuromodulation techniques have emerged as potential non-pharmacological therapy for migraine. This article focuses on a systematic review and meta-analysis of randomized controlled trials of non-invasive vagus nerve stimulation (n-VNS) for migraine to determine the efficacy, safety and tolerability of n-VNS.MethodsWe searched PUBMED, EMBASE, and Cochrane Center Register of Controlled Trials databases up to July 15, 2022. Primary outcomes were monthly reduced migraine/headache days, and pain-free rates within 2 h. Secondary outcomes were  ≥ 50% responder rate, headache intensity, monthly acute medication reduction days, and adverse events.ResultsMeta-analysis shows that non-invasive cervical vagus nerve stimulation (n-cVNS) significantly impacted ≥50% responder rate (OR, 1.64; 95% CI, 1.1 to 2.47; p = 0.02), but had no significant effect on reducing migraine days (MD, −0.46; 95% CI, −1.21 to 0.29; p = 0.23) and headache days (MD, −0.68; 95% CI, −1.52 to 0.16; p = 0.11). In contrast, low-frequency non-invasive auricular vagus nerve stimulation (n-aVNS) was found to significantly reduce the number of migraine days (MD, −1.8; 95% CI, −3.34 to −0.26; p = 0.02) and headache intensity (SMD, −0.7; 95% CI, −1.23 to −0.17; p = 0.009), but not the number of acute medication days per month (MD, −1.1; 95% CI, −3.84 to 1.64; p = 0.43). In addition, n-cVNS was found safe and well-tolerated in most patients.ConclusionThese findings show that n-VNS is a promising method for migraine management.
Development and validation of deep learning-based automatic brain segmentation for East Asians: A comparison with Freesurfer
Authors: Moon Chung-Man , Lee Yun Young , Hyeong Ki-Eun , Yoon Woong , Baek Byung Hyun , Heo Suk-Hee , Shin Sang-Soo , Kim Seul Kee 
Published: May 2023

PurposeTo develop and validate deep learning-based automatic brain segmentation for East Asians with comparison to data for healthy controls from Freesurfer based on a ground truth.MethodsA total of 30 healthy participants were enrolled and underwent T1-weighted magnetic resonance imaging (MRI) using a 3-tesla MRI system. Our Neuro I software was developed based on a three-dimensional convolutional neural networks (CNNs)-based, deep-learning algorithm, which was trained using data for 776 healthy Koreans with normal cognition. Dice coefficient (D) was calculated for each brain segment and compared with control data by paired t-test. The inter-method reliability was assessed by intraclass correlation coefficient (ICC) and effect size. Pearson correlation analysis was applied to assess the relationship between D values for each method and participant ages.ResultsThe D values obtained from Freesurfer (ver6.0) were significantly lower than those from Neuro I. The histogram of the Freesurfer results showed remarkable differences in the distribution of D values from Neuro I. Overall, D values obtained by Freesurfer and Neuro I showed positive correlations, but the slopes and intercepts were significantly different. It was showed the largest effect sizes ranged 1.07–3.22, and ICC also showed significantly poor to moderate correlations between the two methods (0.498 ≤ ICC ≤ 0.688). For Neuro I, D values resulted in reduced residuals when fitting data to a line of best fit, and indicated consistent values corresponding to each age, even in young and older adults.ConclusionFreesurfer and Neuro I were not equivalent when compared to a ground truth, where Neuro I exhibited higher performance. We suggest that Neuro I is a useful alternative for the assessment of the brain volume.