BMC Neurology最新文献

Background: Synaptic degeneration, axonal injury, and white matter disintegration are among the pathological events in Alzheimer's disease (AD), for which growth-associated protein 43 (GAP-43) and diffusion tensor imaging (DTI) could be an indicator. In this study, the cerebrospinal fluid (CSF) GAP-43 clinical trajectories and their association with progression and AD hallmarks with white matter microstructural changes were evaluated.

Methods: A total number of 133 participants were enrolled in GAP-43 and DTI values were compared between groups, both cross-sectionally and longitudinally with two and four-year follow-ups. Subsequently, the correlation between GAP-43 levels in the CSF and DTI values was investigated using Spearman's correlation.

Results: The CSF level of GAP-43 is negatively correlated with the mean diffusivity measures in Fornix (Cres)/Stria terminals in early and late MCI (r_s=-0.478 p = 0.021 and r_s=-0.425 p = 0.038). Additionally, the CSF level of GAP-43 is negatively correlated with fractional anisotropy in the cingulum in late MCI (r_s=-0.437 p = 0.033). Moreover, the axial diffusivity in superior corona radiate (r_s=-0.562 p = 0.005 and r_s=-0.484 p = 0.036) and radial diffusivity in superior fronto-occipital fasciculus was negatively correlated with GAP-43 level in the early and mid-MCI participants (r_s=-0.520 p = 0.011 and r_s=-0.498 p = 0.030).

Conclusions: Presynaptic marker GAP-43 in combination with DTI can be used as a novel biomarker to identify microstructural synaptic degeneration in the early MCI. In addition, it can be used as a biomarker for tracking the progression of AD and monitoring treatment efficacy.

Background: Congenital agenesis of internal carotid artery (ICA) is a rare cerebrovascular variation entity. Most cases of congenital ICA agenesis are asymptomatic and discovered incidentally. Congenital ICA agenesis presenting as ischemic stroke is even rare.

Case presentation: An 80-year-old male patient was admitted to our hospital due to sudden dysarthria and left limb weakness for 3.5 h. Based on emergency physical examination and head computed tomography (CT) scan results, acute ischemic stroke (AIS) of right cerebral hemisphere was suspected. Following intravenous thrombolysis with recombinant tissue plasminogen activator, right congenital agenesis of ICA was confirmed by CT and digital subtraction angiography. Additionally, there was a severe right vertebral artery ostial (VAO) stenosis. After ruling out common causes of AIS such as haematological diseases, arterial dissection, organic heart disease, immunological abnormality and underlying possible malignancies, we hypothesize that the severe stenosis of the right VAO may have contributed to the development of AIS in this case.

Conclusions: We present a case of right congenital ICA agenesis in which severe stenosis of the right VAO may have played a role in the development of AIS. This case underscores a rare scenario where a lesion in the posterior circulation leads to an infarction in the anterior circulation in the setting of congenital ICA agenesis.

Background: Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration. HMSN is highly clinically and genetically heterogeneous with multiple inheritance patterns and phenotypic overlap with other inherited neuropathies and neurodegenerative diseases. Due to this high complexity and genetic heterogeneity, this study aimed to elucidate the genetic causes of HMSN in Pakistani families using Whole Exome Sequencing (WES) for variant identification and Sanger sequencing for validation and segregation analysis, facilitating accurate clinical diagnosis.

Methods: Families from Khyber Pakhtunkhwa with at least two members showing HMSN symptoms, who had not previously undergone genetic analysis, were included. Referrals for genetic investigations were based on clinical features suggestive of HMSN by local neurologists. WES was performed on affected individuals from each family, with Sanger sequencing used to validate and analyze the segregation of identified variants among family members. Clinical data including age of onset were assessed for variability among affected individuals, and the success rate of genetic diagnosis was compared with existing literature using proportional differences and Cohen's h.

Results: WES identified homozygous pathogenic variants in GDAP1 (c.310 + 4 A > G, p.?), SETX (c.5948_5949del, p.(Asn1984Profs*30), IGHMBP2 (c.1591 C > A, p.(Pro531Thr) and NARS1 (c.1633 C > T, p.(Arg545Cys) as causative for HMSN in five out of nine families, consistent with an autosomal recessive inheritance pattern. Additionally, in families with HMSN, a SETX variant was found to cause cerebellar ataxia, while a NARS1 variant was linked to intellectual disability. Based on American College of Medical Genetics and Genomics criteria, the GDAP1 variant is classified as a variant of uncertain significance, while variants in SETX and IGHMBP2 are classified as pathogenic, and the NARS1 variant is classified as likely pathogenic. The age of onset ranged from 1 to 15 years (Mean = 5.13, SD = 3.61), and a genetic diagnosis was achieved in 55.56% of families with HMSN, with small effect sizes compared to previous studies.

Conclusions: This study expands the molecular genetic spectrum of HMSN and HMSN plus type neuropathies in Pakistan and facilitates accurate diagnosis, genetic counseling, and clinical management for affected families.

Background: Arterial stiffness is a degenerative modification in the arterial wall that significantly affects normal aging. Arterial hypertension is a major risk factor for cerebrovascular impairment. Pulse wave velocity (PWV) is an established gold standard for measuring arterial stiffness. Studies demonstrated that individuals with elevated blood pressure (BP) and PWV are more likely to experience worse cognitive decline compared to those with either condition alone. The aim of this review is to explore the clinical importance of arterial stiffness for cognitive function in older adults with hypertension.

Methods: The systematic review was reported following the PRISMA 2020 guidelines and Cochrane protocol and was registered in NIHR PROSPERO. PubMed, Embase, Web of Science, CINAHL, and Cochrane databases were searched for relevant publications up to December 2022. Articles were filtered by age and type of study and only those including a sample size of at least 500 individuals were selected. Screening of abstracts and full-text review of selected articles were carried out through Covidence.

Results: The full-text review included a total of 434 articles. Twenty-eight prospective studies have met the inclusion criteria. Selected studies used PWV as the main measurement of stiffness: 24 used carotid-femoral, 2 used brachial-ankle, 1 used aortic PWV, and 11 compared different measures. Studies demonstrated a strong association between increased BP and PWV with brain damage and cognitive deterioration among older adults. One study did not find an interaction with hypertension, while another study found that PWV but not BP was associated with cognitive decline. Few studies showed that the association between stiffness and cognitive outcomes was not significant after adjustment for BP. Several authors suggested that cognitive decline induced by stiff vasculature and hypertension benefited from antihypertensive therapy.

Conclusion: The results of this review demonstrated that arterial hypertension is an important factor linking arterial stiffness to cognitive health in older individuals. BP plays a crucial role in brain integrity, whereas PWV was shown to be a strong measure associated with cognitive decline. Together, they can lead to disabling cognitive outcomes. Early screening of stiffness, BP control, and compliance with treatment are essential for cerebrovascular disease prevention.

Trial registration: NIHR PROSPERO registry ID: CRD42022379887 .

Background: Endovascular therapy (EVT) is the treatment of choice for acute ischemic stroke (AIS) with large vessel occlusion. However, in many patients, successful EVT recanalization does not correspond to a clinical improvement, called futile recanalization (FR). We aimed to identify stroke risk factors and patient characteristics associated with FR in AIS with large core infarct (LCI).

Methods: A total of 137 patients with AIS with LCI treated by EVT at a single stroke center were retrospectively included from January 2016 to June 2023. LCI was defined by Diffusion-Weighted Imaging-Alberta Stroke Program Early Computed Tomography Score (DWI-ASPECT) < 6. Patient age, sex, modified Rankin Scale (mRS), National Institutes of Health Stroke Scale (NIHSS), time to treatment, risk factors, and radiologic findings were collected, and potential associations with FR were analyzed. FR was defined as successful reperfusion with modified Thrombolysis in Cerebral Infarction (mTICI) ≥ 2b but without functional independence at 90 days (mRS ≥ 3). A multivariate logistic regression analysis was conducted on the clinical characteristics of patients, based on the presence or absence of FR, and the factors influencing FR.

Results: Of 137 patients, 120 showed successful recanalization (mTICI ≥ 2b). All patients were divided into FR (n = 80) and no FR (n = 40) groups. Older age (odds ratio [OR] 1.052, 95% confidence interval [CI] 1.002-1.105; p = 0.041), the higher the initial NIHSS score (OR 1.181, 95% CI 1.037-1.344; p = 0.012), and prior intravenous plasminogen activator (OR 0.310, 95% CI 0.118-0.813, p = 0.017) were independent influencing factors of FR.

Conclusions: The older age, the higher the initial NIHSS, and not receiving intravenous plasminogen activator were independently associated with FR in AIS with LCI. These factors could identify poor responders to EVT recanalization.

Background: Spontaneous intracerebral hemorrhage (SICH) is a severe stroke with high mortality and disability rates. Endoscopic surgery is an increasingly widely used minimally invasive method for the treatment of SICH. However, the impact of fever on patient outcomes remains unclear.

Methods: We retrospectively included patients aged 18 years or older with supratentorial SICH confirmed by CT, who underwent endoscopic hematoma evacuation within 48 h of symptom onset. The primary outcome was the modified Rankin Scale (mRS) score at 3 months. Secondary outcomes included hospital and neurosurgical intensive care unit (NSICU) stays, and perioperative complications. We analyzed the association between postoperative fever (highest temperature within 24 h after surgery) and these outcomes using multivariate analysis, generalized additive models, and segmented regression analysis.

Results: Of the 56 patients, 38 had favorable outcomes (mRS ≤ 3) and 18 had unfavorable outcomes (mRS > 3) at 3 months. A threshold effect at 38.2 °C was observed between postoperative body temperature and clinical outcomes. The mean age was 56 years (SD = 9) for the > 38.2 °C group and 58 years (SD = 8) for the ≤ 38.2 °C group, with a similar proportion of male patients (63% vs. 69%, P = 0.635). Patients with postoperative fever had larger hematoma volumes (65 vs. 56 mL; P = 0.008). Other characteristics were similar between the groups. Postoperative fever (> 38.2 °C) was independently associated with a 4.99-fold increased risk of unfavorable outcomes (95% CI = [1.13 to 25.90]; P = 0.040), which remained significant after excluding patients with postoperative complications (adjusted RR = 16.03, 95% CI = [1.69 to 417.24]; P = 0.033). The association was consistent across subgroups with different Glasgow Coma Scale scores, hematoma volumes, and intraventricular extension. Postoperative fever was also associated with longer NSICU stays (3.1 vs. 2.3 days; P = 0.023), longer hospital stays (17.2 vs. 13.6 days; P = 0.010), more residual hematoma, and greater edema volume. Different antipyretic therapies did not affect outcomes.

Conclusions: This study identifies a temperature threshold (38.2 °C) associated with poor outcomes in SICH patients undergoing endoscopic surgery. Further research is needed to mitigate postoperative fever and improve patient outcomes.

Background: The absence of guidelines for the nursing management of individuals living with epilepsy, who are students in Ghana, has resulted in the high dropout rates of such students. It is our hope, that in the near future, these individuals living with epilepsy will receive the needed attention, experience less stigmatization and discrimination. This, we expect, will result in better retention of such students in schools, improved academic performance and successful graduation. To achieve this, there is the need to develop appropriate guidelines and implement same for their benefit. In line with this, the study aims to develop guidelines for nurses to manage individuals living with epilepsy in Ghanaian schools.

Methodology: Qualitative approach will be adopted to conduct this study in two phases. In the first phase, a case study design will be deployed in the Twifo Atti-Morkwa District of the Central Region of Ghana. The case is the nursing management of individuals living with epilepsy within the school context, and the sources of information will be the general nurses, psychiatric, or community psychiatric nurses working at the schools. Within the context of the case, parents or guardians of individuals living with epilepsy in the schools as well as their teachers will be included in the study. Data will be collected through individual interviews for nurses and parents while focus group discussions will be used for the teachers. Thematic analysis will be used to analyze the data. In the second phase, guidelines will be developed using the modified e-Delphi Technique. The study will be piloted in the Komenda-Edina-Eguafo-Abrem Municipality of the Central Region of Ghana. Ethics approval for this study has been obtained from the Ethical Review Committee of the University of Pretoria in South Africa. Additionally, Administrative approvals have been obtained from the Ghana Education Service.

Discussion: The guidelines developed will form the basis for nursing management of individuals living with epilepsy in Ghanaian schools. This will help to improve educational outcomes for the individuals living with epilepsy.

Background: Excessive daytime sleepiness (EDS) is a common complication of stroke that has a detrimental effect on patients' daily life and functional recovery. The clinical characteristics and risk factors for poststroke EDS may differ between males and females.

Methods: A retrospective study based on hospital medical records was conducted on patients with a diagnosis of stroke who participated in polysomnographic monitoring at the Affiliated Hospital of Yangzhou University from February 2022 to May 2024. Baseline data, laboratory test data, polysomnographic data, and related scale scores were retrospectively collected. The Epworth Sleepiness Scale (ESS) score was used to assess EDS after stroke. Binary logistic regression was used to determine the risk factors for daytime sleepiness. The study followed the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines. Statistical analysis was performed via IBM SPSS 26.0.

Results: ESS scores were higher in males than in females, whereas females had higher Pittsburgh Sleep Quality Index (PSQI) scores and Hospital Anxiety and Depression Scale (HADS) scores. Male sex and higher depression scores were risk factors for EDS; among male patients, higher anxiety scores were a risk factor for EDS, whereas smoking was a protective factor. Depression, a higher arousal index and a reduced proportion of N3 sleep periods were risk factors for EDS in females.

Conclusions: The characteristics and influencing factors of EDS differ between the sexes in patients with mild and moderate ischaemic stroke. Our study may provide evidence and guidance for clinical diagnosis and treatment. Interventional studies are needed to assess the impact of treating these risk factors in the future.

Background: Atrial fibrillation (AF) is a significant risk factor for stroke, imposing a substantial burden on healthcare systems. While studies have shown varying AF prevalence among stroke patients, limited pooled data exists in low-resource settings like Ethiopia. This hinders our understanding of the problem's extent and limits effective prevention and management strategies. Therefore, this systematic review and meta-analysis aimed to determine the pooled prevalence of atrial fibrillation among stroke patients in Ethiopia.

Methods: The searches were carried out in electronic databases such as PubMed/MEDLINE, EMBASE, Science Direct, Web of Science, and Google Scholar. Observational study designs were selected, and studies published until 30 November 2023 addressing the prevalence of atrial fibrillation among stroke patients were identified. Endnote citation manager software version X₉ for Windows was used to collect and organize the search outcomes and remove duplicate articles. The relevant data were extracted from the included studies using a format prepared in Microsoft Excel and exported to STATA 18.0 software for the outcome measures analyses and subgrouping.

Results: Twenty-three research articles were included in the final analysis. These studies evaluated a total of 4,544 stroke patients, of whom 529 were diagnosed with atrial fibrillation (AF). The overall pooled prevalence of AF among stroke patients was 13% [95% CI: (10%, 17%)]. Subgroup analysis by region revealed that the highest pooled prevalence of AF was 16% [95% CI: (8%, 25%)] in the Amhara region, followed by the Oromia region at 15% [95% CI: (7%, 23%)]. In Addis Ababa City, the pooled prevalence of AF among stroke patients was 11% [95% CI: (7%, 15%)]. The Tigray region reported a pooled prevalence of 9% [95% CI: (6%, 11%)]. However, one study from the Southern Nations, Nationalities, and Peoples' Region reported a lower prevalence of AF among stroke patients at 7% [95% CI: (3%, 11%)].

Conclusion: In summary, the study revealed that AF is prevalent among stroke patients in Ethiopia, with regional differences in prevalence. The high prevalence of AF emphasizes the necessity for effective management strategies to prevent recurrent strokes.

Systematic review registration number: PROSPERO CRD: CRD42024581661.

Introduction: Balance impairment is one of the common impairments in patients after stroke. It can lead to depression reduced speed of mobility, dependent on assistive device and reduce quality of life. However, evidence on balance impairment and its risk factors among stroke survivors in Ethiopia was lacking particularly in the study area. Therefore, this study aimed to investigate prevalence and associated factors of balance impairment among stroke survivor's attendee at an outpatient clinic in Amara regional state comprehensive specialized hospital.

Methods: An institutional based cross-sectional study was conducted from April1-June 30, 2022. A total of 400 participants were selected using the systematic random sampling technique. Standard Berg balance scale tool and semi-structure questionnaire was used. Multicollinearity and model fitness were checked. Variables with a p-value of less than 0.25 in the Bivariable regression were entered into a multivariable logistic regression and p value < 0.05 was used as cutoff point for significant variables.

Result: The prevalence of balance impairment was 51.5% (95% CI (46.58, 56.39). Being depressed (AOR = 12.25:95% CI (4.727, 31.779), using walking aids (AOR = 8.76:95%CI3.469, 22.117)), abnormal speed (AOR = 6.73:95%CI (2.671, 16.977)), did not have physiotherapy treatment (AOR = 3.96:95%CI (1.483, 10.586), and unmarried (AOR = 2.71, 95% CI = 1.061, 6.903) were significantly associated with balance impairment.

Conclusion and recommendation: The prevalence of balance impairment in the study was high. Being depressed, use walking aids, did not have physiotherapy treatment, abnormal speed of mobility, and unmarried were significantly associated factors. Therefore; it is better to give greater emphasis for those factors.