Neurology International最新文献

The complicated association between sleep apnea and postpartum depression (PPD), two diseases that can have a major influence on a mother's health and well-being, is examined in this thorough review. An increasing number of people are realizing that sleep apnea, which is defined by repeated bouts of upper airway obstruction during sleep, may be a risk factor for PPD. The literature currently available on the frequency, common risk factors, and possible processes relating these two disorders is summarized in this study. We investigate the potential roles that sleep apnea-related hormone fluctuations, intermittent hypoxia, and fragmented sleep may play in the onset or aggravation of PPD. We also talk about the difficulties in identifying sleep apnea in the postpartum phase and how it can affect childcare and mother-infant attachment. The evaluation assesses the effectiveness of existing screening techniques, available treatments, and how well they manage both illnesses at the same time. Lastly, we identify research gaps and suggest future lines of inquiry to enhance maternal health outcomes.

Background: Neuroplasticity, involving cortical and subcortical reorganization, plays a critical role in the adaptation and compensation process post-amputation. However, underlying neurophysiological changes remain unclear, particularly in brain oscillations. Methods: This is a cross-sectional analysis that includes baseline data from 48 individuals with lower limb amputation from our DEFINE Cohort Study project. EEG data were collected using a 64-channel system during a 5-min resting-state period. Preprocessed data were analyzed for delta and alpha oscillations across frontal, central, and parietal regions. Logistic regression models examined associations between EEG oscillations and clinical variables, including cognition (MoCA), functional independence (FIM), and phantom limb sensations (PLS). Results: The multivariate logistic regression analysis revealed distinct patterns of association between EEG oscillations and clinical variables. Delta oscillations were inversely associated with cognitive scores (OR: 0.69; p = 0.048), while higher delta power was related to the absence of PLS (OR: 58.55; p < 0.01). Frontal alpha power was positively linked to cognitive function (OR: 1.55; p = 0.02) but negatively associated with functional independence (OR: 0.75; p = 0.04). Conclusions: These findings suggest that lower frequencies, such as delta oscillations, play a role as potential compensatory brain rhythms. In contrast, alpha oscillations may reflect a more adapted pattern of brain reorganization after amputation.

Clonal hematopoiesis of indeterminate potential (CHIP) is increasingly recognized as a significant contributor to ischemic stroke and other cardiovascular diseases due to its association with somatic mutations in hematopoietic cells. These mutations, notably in genes like DNMT3A, TET2, and JAK2, induce pro-inflammatory and pro-atherosclerotic processes, promoting vascular damage and stroke risk. With the prevalence of CHIP rising with age, its presence correlates with higher mortality and morbidity rates in ischemic stroke patients. This article explores the mechanisms through which CHIP influences vascular aging and stroke, emphasizing its potential as a biomarker for early risk stratification and a target for therapeutic intervention. The findings highlight the necessity of integrating CHIP status in clinical evaluations to better predict outcomes and personalize treatment strategies in stroke management.

Background: This study examined the impact of age-adjusted cerebrospinal fluid (CSF) protein levels on clinical characteristics, disease severity, and outcomes in Guillain-Barré Syndrome (GBS) patients. Methods: This retrospective study included 71 GBS patients at UTMB Galveston. Albuminocytologic dissociation (ACD) was defined as CSF-total protein (CSF-TP) >0.45 g/L with a cell count of <50 cells/L. Patients were grouped using the conventional cutoff (>0.45 g/L) and age-adjusted upper limits (URLs) for CSF-TP levels, comparing clinical, CSF, and electrophysiological characteristics across groups. Results: The mean age was 50 years (SD = 14.5). The mean age of patients with a CSF-TP > 45 g/L was higher (53 vs. 39 years, p = 0.000), whereas no such difference was noted using age-dependent URLs. Using age-adjusted CSF-TP URLs reduced the sensitivity for detecting ACD by 20%. CSF-TP > age-adjusted URLs were associated with lower MRC sum scores (39 vs. 47.43, p = 0.000), higher ICU admission rates (34% vs. 20%, p = 0.003), and the need for second-line treatment (41% vs. 17%, p = 0.049), and the trends were not observed with the conventional cutoff of 0.45 g/L. CSF-TP was an independent predictor of lower MRC sum scores (p = 0.009, 95% CI -0.058, -0.009) and higher GBS disability scores (p = 0.015, 95% CI 0.000, 0.004). Conclusions: ACD is a common finding in GBS, but normal protein levels do not exclude the diagnosis. Using age-adjusted URLs might improve specificity but reduce sensitivity for ACD detection, potentially increasing false negatives. CSF-TP levels exceeding age-adjusted URLs were more strongly associated with greater disease severity and poorer outcomes compared to the conventional cutoff of 0.45 g/L.

Background: Peripheral facial paralysis (PFP) affects the facial nerve, the seventh cranial nerve. It has an incidence rate of 20-30 cases per 100,000 habitants. The diagnosis is clinical, though imaging tests may be required in some cases. The treatment protocol includes medication, physiotherapy, and, in certain cases, surgery. Proprioceptive neuromuscular facilitation (PNF) techniques and electrical stimulation have been shown to be significant for recovery. Although PFP has a high recovery rate, up to 40% of patients may experience permanent sequelae.

Objective: to assess the efficacy of treatment based on electrical stimulation and/or PNF in patients affected by PFP.

Methods: A systematic search was conducted across six databases (PubMed, Medline, SportDiscus, CINAHL, Scopus, and Web of Science) in November 2024. Randomized controlled trials were included.

Results: Fourteen articles were analyzed, applying PNF and/or electrical stimulation methods, pharmacological treatment, low-level laser treatment, subcutaneous collagen injections, and physiotherapy protocols involving facial expression exercises, yielding evidence for the variables assessed.

Conclusions: PNF and/or electrical stimulation treatment in patients with PFP can be effective when employed early with appropriate parameters, showing promising results in improving quality of life, facial movement quality, and CMAP and reducing both the incidence and degree of synkinesis.

Background/objectives: Spindle cell oncocytomas (SCOs) of the pituitary gland are rare tumors often misdiagnosed for nonfunctioning pituitary macroadenomas. Although classified as grade 1, they are often challenging in terms of diagnosis and treatment. Pituitary SCOs harbor peculiar features such as hypervascularity and stronger adherence to surrounding structures, with increased risk of hemorrhage, partial resection, and significantly higher recurrence rate. Almost 100 cases have been reported so far. The role of surgery is still crucial for the decompression of the optic chiasm as well as for achieving diagnosis. However, given the higher tendency of recurrence, the role of postoperative radiotherapy has been investigated over the last few years.

Case presentation: Here, we reported a case of a 48-year-old female with a pituitary SCO treated at our institution, in which we focused on diagnosis, treatment, and follow-up.

Conclusions: This type of tumor presents a challenge related to its higher vascularity and strong adherence to the surrounding structures. Adjuvant radiotherapy is something that should be considered, especially when gross total resection is not achieved, and finally, SCOs require diligent follow-up to monitor for any signs of disease recurrence or progression.

Migraine with aura (MwA) is a common and severely disabling neurological disorder, characterised by transient yet recurrent visual disturbances, including scintillating scotomas, flickering photopsias, and complex geometric patterns. These episodic visual phenomena significantly compromise daily functioning, productivity, and overall quality of life. Despite extensive research, the underlying pathophysiological mechanisms remain only partially understood. Cortical spreading depression (CSD), a propagating wave of neuronal and glial depolarisation, has been identified as a central process in MwA. This phenomenon is triggered by ion channel dysfunction, leading to elevated intracellular calcium levels and excessive glutamate release, which contribute to widespread cortical hyperexcitability. Genetic studies, particularly involving the CACNA gene family, further implicate dysregulation of calcium channels in the pathogenesis of MwA. Recent advances in neuroimaging, particularly functional magnetic resonance imaging (fMRI), have provided critical insights into the neurophysiology of MwA. These results support the central role of CSD as a basic mechanism behind MwA and imply that cortical dysfunction endures beyond brief episodes, possibly due to chronic neuronal dysregulation or hyperexcitability. The visual cortex of MwA patients exhibits activation patterns in comparison to other neuroimaging studies, supporting the possibility that it is a disease-specific biomarker. Its distinctive sensory and cognitive characteristics are influenced by a complex interplay of cortical, vascular, and genetic factors, demonstrating the multifactorial nature of MwA. We now know much more about the pathophysiology of MwA thanks to the combination of molecular and genetic research with sophisticated neuroimaging techniques like arterial spin labelling (ASL) and fMRI. This review aims to synthesize current knowledge and analyse molecular and neurophysiological targets, providing a foundation for developing targeted therapies to modulate cortical excitability, restore neural network stability, and alleviate the burden of migraine with aura. The most important and impactful research in our field has been the focus of this review, which highlights important developments and their contributions to the knowledge and treatment of migraine with aura.

Background/objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant. Our aim is to further delineate the phenotypic spectrum of ZNF711 gene pathogenic variants, adding clinical features to this rare condition, following a genotype-first approach.

Case presentation: We describe the familiar case of two male siblings presenting with moderate intellectual disability (ID), language delay, and motor stereotypies. Additionally, they experienced generalized tonic-clonic seizures (GTCSs) and myoclonic seizures with interictal electroencephalographic abnormalities. Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C > G pathogenic variant in the ZNF711 gene from maternal inheritance.

Conclusions: This case expands the clinical range of ZNF711 variants by highlighting epilepsy as a potential comorbidity and suggesting other possible causal candidates for generalized epilepsy. Moreover, it emphasizes the need for further research into the phenotypic spectrum associated with this variant.

Huntington's disease (HD) is a progressive neurodegenerative disorder for which, until now, only symptomatic treatment has been available. Lately, there have been multiple ongoing clinical trials targeting therapeutic agents for preventing disease onset or slowing disease progression in HD. These studies are in constant need of reliable biomarkers for neurodegeneration in HD. In recent years, retinal biomarkers have attracted significant attention in neurodegenerative disorders. Likewise, optical coherence tomography (OCT) is being evaluated as a potential biomarker in HD. In this article, we review the existing literature on OCT as a biomarker for neurodegeneration in HD.

Background: Central facial palsy (CFP), resulting from upper motor neuron lesions in the corticofacial pathway, is traditionally characterized by the sparing of the upper facial muscles. However, reports of upper facial weakness in CFP due to acute ischemic stroke have challenged this long-held assumption. This study aimed to determine the prevalence of upper facial weakness in CFP and identify its associated clinical factors.

Methods: In this cross-sectional study, we evaluated consecutive patients with acute ischemic stroke admitted to a university hospital in Thailand from January 2022 to June 2023. Full-face video recordings were analyzed using the Sunnybrook Facial Grading System. Upper facial weakness was defined as asymmetry in at least one upper facial expression. Multivariable logistic regression was performed to identify factors associated with upper facial weakness.

Results: Of 108 patients with acute ischemic stroke, 92 had CFP, and among these, 70 (76%) demonstrated upper facial weakness. Tight eye closure (force and wrinkle formation, both 42%) was the most sensitive indicator for detecting upper facial weakness. Greater stroke severity, as reflected by higher NIHSS scores (adjusted odds ratio [aOR], 1.42; 95% CI 1.07-1.88) and the presence of lower facial weakness (aOR, 6.56; 95% CI 1.85-23.29) were significantly associated with upper facial involvement. Although upper facial weakness was generally milder than lower facial weakness, its severity correlated with increasing lower facial asymmetry during movement.

Conclusions: Contrary to traditional teaching, upper facial weakness is common in CFP due to acute ischemic stroke. The severity of stroke and the presence of lower facial weakness are key predictors of upper facial involvement. These findings underscore the need for clinicians to reconsider the diagnostic paradigm, recognizing that upper facial weakness can occur in CFP. Enhanced awareness may improve diagnostic accuracy, inform treatment decisions, and ultimately lead to better patient outcomes.