Neurological Sciences最新文献_第2页

Ditans and Gepants: hope or false promise for menstrual migraine? Ditans和Gepants：月经期偏头痛的希望还是虚假承诺？

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-03-19 DOI: 10.1007/s10072-025-08121-x

Gonçalo Cabral

引用次数: 0

"Hair-on-end" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation. 一例因 DCX 基因突变导致的典型无脑畸形病例，其增厚的大脑皮层中出现了 "末端毛发"。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-04-07 DOI: 10.1007/s10072-025-08163-1

Sameer Peer, Arvinder Wander, Ankit Kumar Meena

引用次数: 0

In the master's footsteps: Gaetano Rummo (1853-1917), his contributions to medicine and neurology, and his biography of Jean-Martin Charcot (1825-1893). 追随大师的脚步：盖太诺·鲁姆莫（1853-1917），他对医学和神经学的贡献，以及他的让-马丁·夏科传记（1825-1893）。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-02-27 DOI: 10.1007/s10072-025-08071-4

Francesco Brigo, Paolo Benna, Fedele Dono, Lorenzo Lorusso, Enrico Volpe

引用次数: 0

Clinical evaluation and risk factors of head-up tilt test in children. 儿童平视倾斜试验的临床评价及危险因素分析。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-03-11 DOI: 10.1007/s10072-025-08090-1

Qiqi Deng, Shuo Wang, Yuwen Wang, Fang Li, Hong Cai, Runmei Zou, Cheng Wang

{"title":"Clinical evaluation and risk factors of head-up tilt test in children.","authors":"Qiqi Deng, Shuo Wang, Yuwen Wang, Fang Li, Hong Cai, Runmei Zou, Cheng Wang","doi":"10.1007/s10072-025-08090-1","DOIUrl":"10.1007/s10072-025-08090-1","url":null,"abstract":"The head-up tilt test (HUTT) is a fundamental tool for the clinical diagnosis of unexplained syncope. While HUTT has been extensively employed in adult populations for over three decades, its application in pediatric cases remains relatively limited. A comprehensive literature review was conducted to perform a multi-dimensional evaluation of HUTT in pediatric patients. This review focused on the differences in methodologies and diagnostic criteria for children versus adults, described diagnostic accuracy and safety of HUTT, and summarized risk factors of syncope events during the HUTT. Notable differences in HUTT between children and adults are evident across various parameters such as tilt angle, tilt duration, and the administration of pharmacological agents. In pediatric patients, HUTT not only helps in determining the subtype of orthostatic intolerance but also facilitates the identification of the etiology of unexplained symptoms such as syncope, sighing, palpitations, chest pain, and abdominal pain. Severe adverse events are uncommon; nevertheless, registered events include different types of arrhythmias or even cardiac arrest, temporary aphasia, convulsions, seizure-like activities, and psychological and psychiatric symptoms. Furthermore, the occurrence of syncope events during the HUTT is influenced by multiple factors including age, sex, height, weight, systolic blood pressure, diastolic blood pressure, hemodynamic type, average hemoglobin concentration levels of creatine kinase activity levels genetic predispositions, multivitamin status among others.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3061-3069"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transthyretin amyloid deposition in the ligamentum flavum of an Italian cohort of patients with lumbar spinal stenosis. 意大利腰椎管狭窄患者黄韧带中的转甲状腺素淀粉样沉积。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-03-11 DOI: 10.1007/s10072-025-08101-1

Francesca Vitali, Silvia Fenu, Alessandro Izzo, Nicola Montano, Filippo Maria Polli, Alessandro Rapisarda, Francesco Costa, Marco Paolo Schiariti, Marco Gessi, Gianluca Marucci, Giorgio Giaccone, Maria Ausilia Sciarrone, Valeria Guglielmino, Angela Romano, Davide Pareyson, Marco Luigetti

{"title":"Transthyretin amyloid deposition in the ligamentum flavum of an Italian cohort of patients with lumbar spinal stenosis.","authors":"Francesca Vitali, Silvia Fenu, Alessandro Izzo, Nicola Montano, Filippo Maria Polli, Alessandro Rapisarda, Francesco Costa, Marco Paolo Schiariti, Marco Gessi, Gianluca Marucci, Giorgio Giaccone, Maria Ausilia Sciarrone, Valeria Guglielmino, Angela Romano, Davide Pareyson, Marco Luigetti","doi":"10.1007/s10072-025-08101-1","DOIUrl":"10.1007/s10072-025-08101-1","url":null,"abstract":"Transthyretin amyloidosis (ATTR amyloidosis) is a rare systemic disorder characterized by the extracellular deposition of amyloid fibrils, which can affect multiple tissues. Lumbar spinal stenosis (LSS), a condition involving narrowing of the lumbar spinal canal, has been frequently associated with amyloid deposition in the ligamentum flavum (LF). This study aimed to evaluate the prevalence of ATTR deposits in LF samples obtained from patients undergoing LSS surgery at two Italian centers. A total of 37 patients were included, with LF thickness measured via pre-operative MRI scans. Amyloid deposits were detected in 27% of patients, all confirmed as ATTR by immunohistochemistry. DNA analysis revealed no pathogenic mutations in the TTR gene, suggesting that the detected amyloid fibrils originated from the wild-type protein. LF thickness values were consistent with those reported in literature, supporting LF thickening as a potential marker of amyloid deposition. These findings contribute to the understanding of ATTR involvement in LSS and highlight the need for further research to explore the pathophysiological mechanisms and clinical significance of amyloid deposits in the LF.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3295-3298"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Changes in the functional brain networks and graph theory analysis of patients with epilepsy and comorbid migraine without aura. 癫痫合并无先兆偏头痛患者脑功能网络变化及图论分析。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-03-17 DOI: 10.1007/s10072-025-08063-4

Shujiang Zhang, Zhiyu Lv, Jinmei Li, Dong Zhou

{"title":"Changes in the functional brain networks and graph theory analysis of patients with epilepsy and comorbid migraine without aura.","authors":"Shujiang Zhang, Zhiyu Lv, Jinmei Li, Dong Zhou","doi":"10.1007/s10072-025-08063-4","DOIUrl":"10.1007/s10072-025-08063-4","url":null,"abstract":"Purpose: This study aims to evaluate the changes in the functional brain networks and graph theory analysis of patients with epilepsy and comorbid migraine without aura (EM).Methods: We included 30 patients with EM, 20 healthy controls (HC) and 30 epilepsy controls (EC) without migraine. Resting-state functional magnetic resonance imaging was performed to obtain imaging data.Results: The fractional amplitude of low-frequency fluctuations (fALFF) value of the left superior temporal gyrus was higher in the EM group than in the HC group. The regional homogeneity (ReHo) values of the right orbital superior frontal gyrus were higher in the EM group than in the EC group. The functional connectivity between left superior occipital gyrus and left orbital part of the superior frontal gyrus, left middle temporal gyrus, right orbital part of middle frontal gyruss, left medial superior frontal gyrus (cluster 2), right middle frontal gyrus, left middle frontal gyrus, left median cingulate and paracingulate gyri was enhanced in the EM group compared with the HC group; the functional connectivity between the left superior occipital and left medial superior frontal gyri (cluster 1) was weakened. The functional connectivity was weakened between the posterior default mode network (pDMN) and dorsal sensorimotor network (dSMN) and the left frontoparietal network (LFPN) and right frontoparietal network. The functional connectivity between pDMN and LFPN was enhanced in the EM group compared with the EC group. Graph theory analysis revealed that the area under the curve of the standardized characteristic path length of the EM group was smaller than that of the HC and EM groups.Conclusion: The abnormal functional brain networks associated with pain regulation, and changes in topological properties may be involved in the mechanisms underlying migraine without aura occurrence in patients with epilepsy.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3221-3236"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Differential effects of high-frequency repetitive transcranial magnetic stimulation over the left and right dorsolateral prefrontal cortex for post-stroke cognitive impairment. 高频重复经颅磁刺激左右背外侧前额叶皮层对脑卒中后认知障碍的不同效果。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-03-26 DOI: 10.1007/s10072-025-08123-9

Xinlin Jiang, Lei Fan, Wenxin Zhu, Yuwei Xiu, Yuanbiao Liu

{"title":"Differential effects of high-frequency repetitive transcranial magnetic stimulation over the left and right dorsolateral prefrontal cortex for post-stroke cognitive impairment.","authors":"Xinlin Jiang, Lei Fan, Wenxin Zhu, Yuwei Xiu, Yuanbiao Liu","doi":"10.1007/s10072-025-08123-9","DOIUrl":"10.1007/s10072-025-08123-9","url":null,"abstract":"Objective: In this study, it is aimed to explore the different effects of repetitive transcranial magnetic stimulation (HF-rTMS)over the left and right dorsolateral prefrontal cortex (DLPFC) for post-stroke cognitive impairment (PSCI).Method: In this study, we allocated 40 patients with PSCI who were divided into the left DLPFC group (n = 20) and the right DLPFC group (n = 20). Patients received 20HZ rTMS over the ipsilateral DLPFC respectively, for 20 consecutive days (20 min/time, 1 time/day). Cognitive performance was assessed before and after treatment using the Montreal Cognitive Assessment (MoCA), the Loewenstein Occupational Therapy Cognitive Assessment (LOTCA), and the Modified Barthel Index (MBI). Furthermore, event-related potential (ERP) detection was also conducted in patients at baseline and after treatment.Results: After treatment, the global cognition, orientation, and language of patients in the left DLPFC group were significantly improved (P < 0.05). While the enhancement of visual perception and spatial perception in the right DLPFC group was significant (P < 0.05). MBI scores in both groups were increased (P < 0.05), but there was no significant difference between the two groups after treatment (P > 0.05).The decrease of latency in the left DLPFC group was more significant than that in the right DLPFC group (P < 0.05), but there was no significant difference in amplitude (P > 0.05).Conclusion: The results support that high-frequency rTMS over the left DLPFC is a more effective treatment for improving global cognition and suggest that the left and right DLPFC are associated with different cognitive functions.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3157-3164"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Unveiling Gaps and Demographic Influences in Alzheimer's Therapy: A Data-Centric Study of FDA-Approved Late-Phase Clinical Trials. 揭示阿尔茨海默病治疗的差距和人口影响：fda批准的晚期临床试验的数据中心研究。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-03-27 DOI: 10.1007/s10072-025-08135-5

Vaishnavi Milind Kalokhe, Simran Simran, Aftab Ahmad, Fathima Musthafa, Vishal Sachin Gangawane, Rajeev Singh Raghuvanshi, Saurabh Srivastava

{"title":"Unveiling Gaps and Demographic Influences in Alzheimer's Therapy: A Data-Centric Study of FDA-Approved Late-Phase Clinical Trials.","authors":"Vaishnavi Milind Kalokhe, Simran Simran, Aftab Ahmad, Fathima Musthafa, Vishal Sachin Gangawane, Rajeev Singh Raghuvanshi, Saurabh Srivastava","doi":"10.1007/s10072-025-08135-5","DOIUrl":"10.1007/s10072-025-08135-5","url":null,"abstract":"Background: Alzheimer's disease is more prevalent in women than in men. In this study, the author examined the U.S. Food and Drug Administration (FDA) completed phase 4 clinical trials associated with Alzheimer's. The research aims to evaluate the women's participation-to-prevalence ratio (PPR) for Alzheimer's disease.Method: Using the FDA's publicly available clinical trial database, 45 Phase 4 Alzheimer's trials from 2003 to 2019 were assessed. Further, the total PPR and yearly PPR value are calculated by dividing the percentage of women in clinical trials by the total percentage of women affected by Alzheimer's disease. The PPR value equal to 1 showcases the balanced participation of females in the Phase 4 clinical trial and the diseased affected population.Result: Out of 45 trials, 41 were completed and four were terminated. The gender data was unavailable for three trials. In 38 clinical trials associated with Alzheimer's disease, 4502 participants were enrolled. Among 4502, 2604 (57.84%) were found to be female and 1898 (42.15%) were male. The PPR for women was 0.80, reflecting an adequate representation of women participants in late-phase clinical trials. The yearly PPR reduction has been seen in female participants.Conclusion: In the year-based PPR, the range was from 0.72-1.0. In the initial year, the range was 1, which was reduced to 0.72 in 2007. In total, 38 completed clinical trials, 18 trials used placebo treatment, and the gender ratio in placebo was adequate. More transparency is essential in gender concerning SAE in publicly available databases.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3085-3095"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC). 伊朗原发性家族性脑钙化（PFBC）患者MYORG突变谱及临床特征

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-03-22 DOI: 10.1007/s10072-025-08105-x

Parsa Soleimani, Mana Khojasteh, Aida Ghasemi, Ali Heshmati, Mohammad Rohani, Afagh Alavi

{"title":"Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC).","authors":"Parsa Soleimani, Mana Khojasteh, Aida Ghasemi, Ali Heshmati, Mohammad Rohani, Afagh Alavi","doi":"10.1007/s10072-025-08105-x","DOIUrl":"10.1007/s10072-025-08105-x","url":null,"abstract":"Introduction: Mutations in myogenesis regulating glycosidase (MYORG), result in autosomal recessive (AR) form of Primary Familial Brain Calcification (PFBC) which is a rare neurodegenerative disease. PFBC is characterized by symmetric brain calcifications, particularly in the thalami, cerebellum, basal ganglia, and subcortical white matter. To date, eight genes have been linked with PFBC, however, currently about half of people with PFBC remain without a genetic diagnosis. Among these genes, MYORG, JAM2, CMPK2, and NAA60 are associated with an AR-PFBC. Within AR-PFBCs, the frequency of mutations in MYORG and JAM2 is 13% and 2%, respectively. In this study, we present a comprehensive clinical and genetic analysis of a group of Iranian PFBC patients.Methods: Clinical and paraclinical assessments of all patients were done. Whole-exome sequencing was performed for all probands. Candidate variants were confirmed and checked in their family members.Results: Four homozygous variants in MYORG across four families were identified: two novel variants, c.1727G > A;p.Arg576His and c.1687del;p.The563Glnfs*191, in two families and two known mutations, c.176G > A;p.Gly59Asp and c.1092_1097del;p.Phe365_Asp366del in the remaining two families. A potential SNV/CNV in the PFBC-related genes that causes disease was not detected in one proband.Conclusion: Our study expanded the clinical features and mutation spectrum of MYORG and emphasizes to genetic heterogeneity in different populations. While SLC20A2 mutations are the common cause of PFBC in other populations, MYORG and JAM2 mutations seem to be the main cause of this disease in Iran. This issue could prove to be advantageous in the process of gene prioritization for screening within this specific population.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3249-3261"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Results of therapy in children diagnosed with severe traumatic brain injury. 儿童严重外伤性脑损伤的治疗结果。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-07-01 Epub Date: 2025-04-25 DOI: 10.1007/s10072-025-08191-x

Tatyana Sakharova, Dimitar Monov, Nikolay Lilyanov

{"title":"Results of therapy in children diagnosed with severe traumatic brain injury.","authors":"Tatyana Sakharova, Dimitar Monov, Nikolay Lilyanov","doi":"10.1007/s10072-025-08191-x","DOIUrl":"10.1007/s10072-025-08191-x","url":null,"abstract":"The aim of this research is to enhance therapeutic outcomes in children diagnosed with severe craniocerebral trauma by evaluating the contributing factors involved in cerebral injury. The investigation focused on evaluating the impact of infusion therapy on the improvement of pediatric patients' conditions with SCCT, particularly by assessing hydrobalance indicators. Adaptive changes associated with the humoral stress response were evaluated through alterations in hormone concentrations (thyrotropin (TSH), cortisol (C), prolactin (P)). Concentrations of plasma protein and glucose were analyzed. A total of 804 children with isolated severe craniocerebral trauma (SCCT) were enrolled and stratified into retrospective (n = 474) and prospective (n = 100) cohorts. Children with negative hydrobalance exhibited a higher mortality rate compared to those with positive hydrobalance (24% vs. 10%, p ≤ 0.05). Positive hydrobalance, in conjunction with appropriate infusion therapy and rehydration, positively influenced the prognosis of severe cranio-cerebral trauma (SCCT). These findings can be applied in clinical practice to optimize the treatment of children with SCCT and improve their prognosis. The level of total protein was higher in conscious children after 48 h (59.9 ± 1.5 g/L, p ≤ 0.05) in comparison to deceased individuals (54.9 ± 1.6 g/L, p ≤ 0.05). Stress-induced hyperglycemia was associated with the severity of severe cranio-cerebral trauma. The study corroborated the significance of infusion therapy in the treatment of children with SCCT. Indicators of total protein, glucose, and P concentrations can serve as valuable tools for assessing the severity and prognostication of SCCT.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3237-3247"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0