{"title":"Clinical characteristics, diagnostic challenges, and outcome of paroxysmal sympathetic hyperactivity in pediatric patients: a retrospective cohort study in a tertiary hospital setting.","authors":"Wesam Althaqafi, Waad Bader Almanie, Sulaiman Dakhel Almasoud, Duaa Baarmah","doi":"10.1186/s12883-025-04163-y","DOIUrl":"https://doi.org/10.1186/s12883-025-04163-y","url":null,"abstract":"<p><strong>Introduction: </strong>Paroxysmal Sympathetic Hyperactivity (PSH) is an under-recognized condition in pediatric patients, particularly those with non-traumatic brain injuries, often leading to delayed diagnosis and suboptimal management. The condition features episodic increases in sympathetic nervous system activity, which creates significant diagnostic and therapeutic challenges. This study aims to comprehensively characterize the clinical presentation, diagnostic challenges, and treatment outcomes of pediatric PSH in a tertiary care setting. Additionally, we investigate factors contributing to delayed diagnosis and assess the impact of various clinical and management variables on patient outcomes.</p><p><strong>Methods: </strong>This retrospective cohort study was conducted at King Abdullah Specialist Children's Hospital (KASCH), Riyadh, Saudi Arabia, encompassing 42 pediatric patients diagnosed with PSH between 2016 and 2023. We extracted comprehensive data from patient records, including demographic profiles, clinical presentations, diagnostic findings, and treatment outcomes. Statistical analyses were employed to identify factors influencing mortality and clinical improvement, including univariate and multivariate regression.</p><p><strong>Results: </strong>The cohort had a mean age of 6.53 years, with PSH onset typically around 4.19 years. The majority (88.1%) of PSH cases stemmed from non-traumatic causes, notably hypoxic-ischemic encephalopathy (31%). Key clinical features included fever, tachycardia, and dystonia, with a significant rate of initial misdiagnosis (69%). Healthcare providers frequently administer gabapentin as a preventive medication, while they commonly use benzodiazepines for abortive therapy. Clonidine use was associated with a statistically significant reduction in mortality (P < 0.05), whereas delayed diagnosis correlated with poorer clinical outcomes.</p><p><strong>Conclusions: </strong>PSH in pediatric patients predominantly arises from non-traumatic brain injuries, presenting with nonspecific symptoms that often lead to misdiagnosis. This study underscores the importance of early and accurate diagnosis in improving patient outcomes. Clonidine shows potential as a life-saving intervention in this context. These findings highlight the need for further research to refine diagnostic criteria and optimize treatment strategies for pediatric PSH.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"179"},"PeriodicalIF":2.2,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2025-04-23DOI: 10.1186/s12883-025-04185-6
Reem Waziry, Olajide A Williams, Henning Tiemeier, Caleb Miles
{"title":"Vascular-related biological stress, DNA methylation, allostatic load and domain-specific cognition: an integrated machine learning and causal inference approach.","authors":"Reem Waziry, Olajide A Williams, Henning Tiemeier, Caleb Miles","doi":"10.1186/s12883-025-04185-6","DOIUrl":"https://doi.org/10.1186/s12883-025-04185-6","url":null,"abstract":"<p><strong>Background: </strong>Vascular disease in aging populations spans a wide range of disorders including strokes, circulation disorders and hypertension. As individuals age, vascular disorders co-occur and hence exert combined effects. In the present study we introduce vascular-related biological stress as a novel biomarker to capture the combined effects of vascular disease burden for more precision in early detection of cognitive changes in aging.</p><p><strong>Objective: </strong>to determine the role of vascular-related biological Stress, DNA methylation-based biological aging and Allostatic Load in the relationship between vascular disorders and major cognitive domains including global cognition, episodic memory and executive function in a representative sample of adults across the age span.</p><p><strong>Methods: </strong>The present study included participants from MIDUS refresher sample. Vascular-related biological stress included: BMI, Average blood pressure, sitting, Waist-hip ratio, Blood hemoglobin A1c percent, Blood dehydroepiandrosterone (ng/mL), Blood fasting insulin levels uIU/mL, Blood serum interleukin-8 (pg/mL), Blood serum interleukin-6 (pg/mL), Blood fasting glucose levels mg/dL and Blood fibrinogen (mg/dL). DNA methylation-based biological age measures included GrimAge2 that was constructed based on DNA methylation surrogate markers for select plasma proteins and smoking-pack years. Allostatic load scores were calculated based on biomarkers commonly used in allostatic load calculations: cortisol (urine), norepinephrine (urine), epinephrine (urine), dopamine (urine), glycosylated hemoglobin (HBA1C, blood), low density lipoprotein (LDL, blood), C-reactive protein (CRP, blood) dehydroepiandrosterone sulfate (DHEAS, blood), high-density lipoprotein (HDL, blood) and systolic blood pressure (average, sitting). Least Absolute Shrinkage and Selection Operator (LASSO) and response models (item and continuous) were used to calculate vascular-related biological stress and theta scores. Four-way decomposition modeling approach was used to calculate the natural direct and indirect effects in the relationship between vascular disease and major cognitive domains.</p><p><strong>Results: </strong>550 individuals with data on biomarkers, DNA methylation and cognition assessments were included in the present study. Median age was 54 (range = 26, 78) with females representing 48% of the sample. In the relationship between vascular disease and cognition, the overall proportions mediated through vascular-related biological stress (item-response scale) were 0.60 (P = 0.01); 1.1 (P = 0.308); 0.53 (P = 0.002) for global cognition, episodic memory and executive function respectively. The overall proportions mediated through DNA methylation (GrimAge2) were 0.27 (P = 0.002); 0.39 (P = 0.102); 0.20, (P = 0.002) for global cognition, episodic memory and executive function respectively and 0.10 (P = 0.08); 0.09 (P = 0.5); 0.07 (P = 0.18) through al","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"174"},"PeriodicalIF":2.2,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2025-04-23DOI: 10.1186/s12883-025-04195-4
Gao Zheng-Hua, Lu Yao, Lin Song-Jun, Cai Hao-Bin, Cai Tian-Tian
{"title":"Infarction in bilateral corona radiata presented as unilateral peripheral facial paralysis: a case report.","authors":"Gao Zheng-Hua, Lu Yao, Lin Song-Jun, Cai Hao-Bin, Cai Tian-Tian","doi":"10.1186/s12883-025-04195-4","DOIUrl":"https://doi.org/10.1186/s12883-025-04195-4","url":null,"abstract":"<p><p>A 56-year-old man presented with right-sided drooping of the mouth corner and eyelid, along with weakness in the left lower limb. His MRI revealed a corona radiata lacunar infarction on the left and an acute infarction on the right. However, the needle electromyography (EMG) results were unremarkable. It was determined that his unilateral peripheral facial paralysis (PFP)-like symptoms were secondary to bilateral corona radiata infarctions. This case highlights that some patients with cerebral strokes may present with PFP-like symptoms. To minimize misdiagnosis, clinicians should consider the possibility of central lesions manifesting as PFP.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"176"},"PeriodicalIF":2.2,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144061771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinical and magnetic resonance imaging features in acute ischemic stroke with early wallerian degeneration: a case-control study.","authors":"Kazumichi Ota, Yoshihiko Nakazato, Kazuhide Seo, Hitoshi Kawasaki, Mariko Okada, Takashi Mithufuji, Yasuo Ito, Toshimasa Yamamoto","doi":"10.1186/s12883-025-04179-4","DOIUrl":"https://doi.org/10.1186/s12883-025-04179-4","url":null,"abstract":"<p><strong>Background: </strong>In advanced stages, Wallerian degeneration (WD) after cerebral infarction appears as an abnormality in the descending corticospinal tract on T2-weighted images. However, early WD in this region is detectable via diffusion-weighted imaging (DWI) within the first 14 days. We aimed to investigate the clinical and imaging characteristics of early WD using patient data.</p><p><strong>Methods: </strong>We retrospectively reviewed clinical characteristics and magnetic resonance imaging (MRI) features of 105 acute stroke cases. Early WD factors, including the time from symptom onset to MRI scan, Brunnstrom stage at admission and discharge, risk factors for ischemic stroke, classification per the Stop Stroke Study Trial of Org 10,172 in Acute Stroke Treatment classification, infarct location, responsible artery, and MRI slice number for small-artery disease, were evaluated. Data were analysed using Wilcoxon and chi-squared or Fisher's exact tests. Additionally, changes in MRI signals were evaluated in specific early WD cases.</p><p><strong>Results: </strong>Early WD was identified in 22 (21%) patients, and 15 cases involved small-artery disease. The infarctions were located in the paraventricular corona radiata. Patients with early WD had significantly lower Brunnstrom stage scores at admission (p < 0.001) and discharge (p = 0.0012) than those without early WD. For small-artery disease, early WD cases showed a significantly higher MRI slice number than those without early WD (p < 0.001), with the lenticulostriate artery (LSA) identified as the responsible artery (p = 0.033). In the chronic phase, high DWI signals indicating early WD disappeared in all seven patients. Nine patients with early WD exhibited concurrent high signals on DWI and fluid-attenuated inversion recovery (FLAIR) in the descending corticospinal tract. Persistent high FLAIR signals detected in two patients with early WD with follow-up indicated irreversible changes.</p><p><strong>Conclusions: </strong>The degree of pyramidal tract damage and severity of paralysis are reliable indicators of early WD. Early WD may also occur in small-artery disease, with the main responsible artery being the LSA. DWI and FLAIR imaging can reflect the progression from early WD to chronic WD.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"170"},"PeriodicalIF":2.2,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2025-04-17DOI: 10.1186/s12883-025-04183-8
Hong Chen, Yongmei Deng, Xuan Li, Aicong Ding, Jiamei Wang, Ai Sun, Houmian Tu, Yuchen Qiao
{"title":"Factors associated with dementia risk reduction lifestyle in mild cognitive impairment: a cross-sectional study of individuals and their family caregivers.","authors":"Hong Chen, Yongmei Deng, Xuan Li, Aicong Ding, Jiamei Wang, Ai Sun, Houmian Tu, Yuchen Qiao","doi":"10.1186/s12883-025-04183-8","DOIUrl":"https://doi.org/10.1186/s12883-025-04183-8","url":null,"abstract":"<p><strong>Objective: </strong>A healthy lifestyle has been shown to mitigate cognitive decline in patients with mild cognitive impairment, with family caregivers playing a pivotal role in the patients' lifestyle management. Exploring the level of dementia risk reduction lifestyle and the influencing factors at both the patient and caregiver levels in patients with mild cognitive impairment is crucial for identifying strategies to improve patients' lifestyles and delay disease progression.</p><p><strong>Methods: </strong>Using a convenience sampling method, 302 patients with mild cognitive impairment and their family caregivers admitted to the neurology departments of four tertiary care hospitals in China, from December 2024 to February 2025 were recruited and surveyed using a general information questionnaire, the Dementia Risk Reduction Lifestyle Scale (DRRLS), the Motivation to Change Lifestyle and Health Behaviors for Dementia Risk Reduction scale (MCLHB-DRR), the Perceived Social Support Scale (PSSS), and the Mutuality Scale (MS). Multiple linear regression was used to analyze the factors influencing the dementia risk reduction lifestyle of patients.</p><p><strong>Results: </strong>DRRLS score of 83.61 ± 16.13, multiple linear regression showed that the patient's monthly individual income, the presence of chronic disease, health beliefs, and social support were independent influences on their dementia risk reduction lifestyle. Furthermore, the lifestyle and mutuality of family caregivers were also independent influences on dementia risk reduction lifestyle in patients. The final model explained 75.5% of the variance in the lifestyle.</p><p><strong>Conclusions: </strong>Patients with mild cognitive impairment have a general level of dementia risk reduction lifestyle. The characteristics of both patients and caregivers collectively influence the patients' lifestyle. Healthcare providers should conduct early dyadic assessments and develop targeted dyadic intervention strategies based on influencing factors to improve patients' lifestyles and help them delay disease progression.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"169"},"PeriodicalIF":2.2,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Managing non-motor symptoms of Parkinson disease in China: clinical perspectives.","authors":"Jing Chen, Xiaotong Feng, Danhua Zhao, Baoyu Chen, Chaobo Bai, Qi Wang, Yuan Li, Junyi Chen, Xintong Guo, Jinjin Wang, Lin Zhang, Junliang Yuan","doi":"10.1186/s12883-025-04175-8","DOIUrl":"https://doi.org/10.1186/s12883-025-04175-8","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is a complex neurodegenerative disorder with both motor and non-motor symptoms (NMS), the latter having a profound impact on patients' quality of life (QoL). Increased recognition of NMS underscores the need for comprehensive approaches. The study aimed to evaluate healthcare professionals' awareness and management practices of NMS in PD in China.</p><p><strong>Methods: </strong>A nationwide online survey was conducted among 913 neurologists and psychiatrists from July to October 2023. The questionnaire comprised 65 closed-ended questions addressing basic demographics, awareness, assessment, and treatment strategies for NMS in PD. Chi-square tests were used to analyze differences between the two professional groups.</p><p><strong>Results: </strong>While 95.4% of respondents acknowledged the negative impact of NMS on PD patients' QoL, only 71.0% of neurologists regularly focused on NMS. Approximately half of the NMS were inadequately addressed, with attention to NMS often beginning in the middle to late stages of PD. Significant gaps were identified in awareness and treatment, particularly in managing depression/anxiety, cognitive impairment, and psychotic symptoms. Movement disorder specialists demonstrated higher levels of awareness and management proficiency for NMS.</p><p><strong>Conclusions: </strong>The study highlights critical gaps in NMS management for PD patients in China, underscoring the need for improved early recognition and appropriate intervention.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"168"},"PeriodicalIF":2.2,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2025-04-16DOI: 10.1186/s12883-025-04180-x
Fengqi Yang, Zhu Tian, Yanhong Lu, Yang Li, Kai Liu
{"title":"Miller-Fisher syndrome subtype with isolated bilateral mydriasis: a pediatric case report.","authors":"Fengqi Yang, Zhu Tian, Yanhong Lu, Yang Li, Kai Liu","doi":"10.1186/s12883-025-04180-x","DOIUrl":"https://doi.org/10.1186/s12883-025-04180-x","url":null,"abstract":"<p><strong>Background: </strong>Miller-Fisher Syndrome (MFS), a distinct subtype of Guillain-Barré Syndrome (GBS), accounts for 5% of GBS cases and classically manifests with the triad of ophthalmoplegia, ataxia, and areflexia. Isolated bilateral mydriasis as the sole presenting feature is exceptionally rare, particularly in pediatric populations. While pupillary abnormalities have been documented in adult MFS cases, their diagnostic significance and management in children remain poorly characterized. We report a novel pediatric case of a 7-year-old girl presenting with 7 days of unexplained bilateral painless mydriasis unresponsive to light accommodation. Initial symptomatic management targeting potential toxic or neuropathic etiologies proved ineffective. Recognition of this atypical presentation prompted serological evaluation for autoimmune neuropathy markers, which demonstrated positivity for GQ1b IgM, GQ1b IgG, and GT1a IgG antibodies, confirming MFS diagnosis. Rapid clinical improvement followed intravenous immunoglobulin (IVIG) therapy. This case highlights the diagnostic challenges posed by incomplete or atypical MFS manifestations and underscores the necessity of early antibody testing in unexplained autonomic or neurological symptoms.</p><p><strong>Conclusion: </strong>This report expands the phenotypic spectrum of pediatric MFS by demonstrating isolated bilateral mydriasis as a potential initial manifestation, clinicians evaluating pupillary dilation should consider MFS in differential diagnoses. Future studies should continue to explore the pathophysiological link between anti-GQ1b antibodies and isolated autonomic dysfunction in pediatric MFS.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"166"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2025-04-16DOI: 10.1186/s12883-025-04178-5
Salahuddin Khan, Meshal Alzakari, Faisal Alzkari, Renad Alsuhaibani, Alanoud Alabdulkarim, Amjad Alghanmi, Muhammad Umer Abdul Moiz, Arwa Huda, Amra Salahuddin, Ahmed Althobaiti
{"title":"Knowledge, awareness, attitudes, and practices toward Parkinson's disease among the general population in Saudi Arabia.","authors":"Salahuddin Khan, Meshal Alzakari, Faisal Alzkari, Renad Alsuhaibani, Alanoud Alabdulkarim, Amjad Alghanmi, Muhammad Umer Abdul Moiz, Arwa Huda, Amra Salahuddin, Ahmed Althobaiti","doi":"10.1186/s12883-025-04178-5","DOIUrl":"https://doi.org/10.1186/s12883-025-04178-5","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease is a progressive disease that causes damage to parts of the brain, especially the substantia nigra. It is the most common motor brain condition.</p><p><strong>Objective: </strong>To investigate the knowledge, awareness, attitudes, and practices toward Parkinson's disease among the general population in Saudi Arabia.</p><p><strong>Methods: </strong>This cross-sectional study was conducted in Saudi Arabia from July 20 to November 20, 2024, targeting adults aged 18 years and older. Participants (n = 385) were randomly selected via social media platforms, using a bilingual (Arabic and English) online questionnaire. The survey included demographics, knowledge, awareness, attitudes, and practices. Data was analyzed using SPSS (version 28), with ethical approval obtained.</p><p><strong>Results: </strong>A total of 330 participants were surveyed, mostly young (292, 88.5% aged 18-24), female (269, 81.5%), and students (281, 85.2%). Nearly half (162, 49.1%) had heard of PD, but only 81 (24.5%) showed good knowledge, with misconceptions about causes and treatment. Commonly recognized symptoms included hand tremors (292, 88.5%) and poor balance (210, 63.6%), while awareness of non-motor symptoms was low. Most participants (319, 96.7%) supported public education, and 310 (93.9%) recommended social support for PD patients.</p><p><strong>Conclusion: </strong>This study emphasizes the lack of public knowledge and awareness regarding Parkinson's disease, its symptoms, and its causes in Saudi Arabia. The results highlight the need for educational efforts to improve understanding and address misconceptions.</p><p><strong>Categories: </strong>Neuroscience.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"167"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC NeurologyPub Date : 2025-04-16DOI: 10.1186/s12883-025-04184-7
Jiayu Liu, Jiafeng Liu, Lanjun Li, Wenju Li, Ziyang Jiang, Gang Yin, Yunling Zhang, Yuan Sun
{"title":"Causal relationship between Parkinson's disease and gastric cancer: a Mendelian randomization study.","authors":"Jiayu Liu, Jiafeng Liu, Lanjun Li, Wenju Li, Ziyang Jiang, Gang Yin, Yunling Zhang, Yuan Sun","doi":"10.1186/s12883-025-04184-7","DOIUrl":"https://doi.org/10.1186/s12883-025-04184-7","url":null,"abstract":"<p><strong>Background: </strong>Age-related diseases, including Parkinson's disease and gastric cancer, substantially affect the global aging population. Previous observational research has suggested a potential association between Parkinson's disease and gastric cancer; however, findings regarding this aspect have been inconsistent. In the present study, we used data from genome-wide association studies to infer a causal relationship between Parkinson's disease and gastric cancer based on genetic variations.</p><p><strong>Methods: </strong>We used the two-sample Mendelian randomization method to analyze data from the genome-wide association study catalog, including 482,730 and 476,116 patients with Parkinson's disease and gastric cancer, respectively. Inverse-variance weighting was used as the primary Mendelian randomization analysis. We conducted sensitivity analyses to evaluate heterogeneity and pleiotropy, followed by two-step Mendelian randomization to ascertain the latent mediator of the relationship between Parkinson's disease and gastric cancer.</p><p><strong>Results: </strong>Our results suggested a causal negative relationship between Parkinson's disease and gastric cancer. Heterogeneity and pleiotropy analyses confirmed the robustness of the inverse-variance weighting results. Furthermore, P2X6 was identified as a key factor mediating this negative causal relationship.</p><p><strong>Conclusions: </strong>Patients with Parkinson's disease may have a lower risk of developing gastric cancer, with P2X6 serving as a significant mediating variable. These novel insights can aid the development of potential therapeutic targets for patients with Parkinson's disease or gastric cancer.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"163"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001501/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The hypoperfusion volume has a strong predictive value for hemorrhagic transformation in acute ischemic stroke patients with anterior circulation occlusion after endovascular thrombectomy.","authors":"Danxia Chen, Bingdong Xu, Tongguo Wei, Qinhui Zhu, Yu Zhong, Yusheng Zhang","doi":"10.1186/s12883-025-04186-5","DOIUrl":"https://doi.org/10.1186/s12883-025-04186-5","url":null,"abstract":"<p><strong>Objective: </strong>It remains unclear whether hypoperfusion volume elevates the risk of hemorrhagic transformation (HT) after endovascular thrombectomy (EVT) in patients with acute ischemic stroke (AIS). This study aims to investigate the association between hypoperfusion volume and HT after EVT.</p><p><strong>Materials and methods: </strong>We retrospectively recruited AIS patients with anterior circulation occlusion after receiving EVT from January 2021 to May 2024. The pre-EVT hypoperfusion volume was assessed using computed tomography perfusion, with a hypoperfusion area defined as time-to-maximum > 6s. Multivariable analysis determined whether the hypoperfusion volume served as an independent predictor of symptomatic intracerebral hemorrhage (sICH) or intracerebral hemorrhage (ICH), and its predictive value was evaluated using receiver operating characteristic (ROC) curves.</p><p><strong>Results: </strong>A total of 115 patients were analyzed, with 55 (47.8%) having ICH and 16 (13.9%) experiencing sICH. The median age was 67, and 28.6% were female. The median core infarct volume was 4.3 ml, and the median hypoperfusion volume was 112.8 ml. After adjusting for potential confounding factors, the hypoperfusion volume remained independently correlated with sICH (OR = 1.008, 95% CI = 1.001-1.015, P = 0.018) and ICH (OR = 1.006, 95% CI = 1.001-1.012, P = 0.033). ROC curve analysis demonstrated that the hypoperfusion volume effectively predicted sICH [(area under the curve (AUC) = 0.702] or ICH (AUC = 0.643).</p><p><strong>Conclusion: </strong>The hypoperfusion volume has a strong predictive value for sICH and ICH in AIS patients with anterior circulation occlusion after EVT. This underscores the necessity of assessing the hypoperfusion volume before EVT, particularly for patients with smaller core infarct volumes in AIS.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"164"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}