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Cureus May 2024Ischemic strokes (IS) in young adults often evade early detection, resulting in delayed diagnosis until complications arise. Cervical/vertebral artery dissection, a... (Review)
Review
Exploring the Nexus: A Systematic Review on the Interplay of the Methylenetetrahydrofolate Reductase (MTHFR) Gene C677T Genotype, Hyperhomocysteinemia, and Spontaneous Cervical/Vertebral Artery Dissection in Young Adults.
Ischemic strokes (IS) in young adults often evade early detection, resulting in delayed diagnosis until complications arise. Cervical/vertebral artery dissection, a significant contributor to these strokes, presents with symptoms such as migraine with aura, severe headache, and neck pain, commonly overlooked due to their nonspecific nature. This review investigates early indicators of artery dissections, emphasizing their importance in diagnosis and exploring the correlation between methylenetetrahydrofolate reductase (MTHFR) gene C677T genotype polymorphism, hyperhomocysteinemia (HHCY), and IS in young adults. This systematic review encompasses a thorough analysis of 11 papers, including four observational studies, three case reports, three narrative reviews, and one experimental study, involving 4,840 patients aged 18-45 years. Findings reveal HHCY as a significant contributor to vascular damage and tissue ischemia leading to IS. The MTHFR gene C677T genotype polymorphism is closely associated with HHCY, often contributing to underdiagnosed strokes in young adults. Cervical/vertebral artery dissection may manifest as initial symptoms of neck pain or headache, remaining undiagnosed until imaging is conducted. Importantly, the review suggests that MTHFR gene polymorphism can be mitigated through simple supplementation with vitamin B12 and folates, serving as a valuable tool for primary prevention. Additionally, betaine, a methyl donor, was explored in severe MTHFR gene polymorphism cases resistant to conventional supplementation. In conclusion, recognizing the significance of early signs and symptoms, along with a high clinical suspicion, is crucial for preventing catastrophic outcomes, mortality, and morbidity associated with IS in young adults lacking traditional risk factors. The MTHFR gene C677T genotype polymorphism, a potential genetic cause, can be easily managed with simple measures but is often overlooked or underdiagnosed.
PubMed: 38910639
DOI: 10.7759/cureus.60878 -
Seizure Jun 2024This systematic review and meta-analysis examined the risk factors for suicide-related events (SRE) in patients with epilepsy (PWE). (Review)
Review
PURPOSE
This systematic review and meta-analysis examined the risk factors for suicide-related events (SRE) in patients with epilepsy (PWE).
METHODS
The PubMed, Embase, Cochrane Online Library, and ClinicalTrials.gov databases were searched for relevant articles published from 1946 to August 30, 2022. The quality of the extracted articles was assessed using the Newcastle-Ottawa scale. Subsequently, a meta-analysis of PWE was performed to calculate the random-effects pooled odds ratios (ORs) for studies investigating the association between suicide and its associated risk factors. All statistical analyses were performed using R version 4.1.0.
RESULTS
A total of 2,803 studies were screened, of which 23 articles comprising 6,723 PWE were included in our meta-analysis. Female sex (odds ratio [OR]=1.24, 95 % confidence interval [CI]: 1.08-1.43), low quality of life (QOL) scores (standardized mean difference [SMD]= -0.89, CI: -1.17 - -0.61), poor social support (OR=3.44, CI: 1.83-6.46), unemployment (OR=1.82, CI: 1.40-2.38), unmarried status (OR=1.48, CI: 1.12-1.97), low income (OR=1.37, CI: 1.07-1.76), low education (OR=1.33, CI: 1.04-1.68), use of antidepressant drugs (OR=7.77, CI: 3.17-19.03), uncontrolled seizures (OR=2.28, CI: 1.63-3.18), use of multiple antiepileptic drugs (OR=1.70, CI: 1.33-2.18), early age at onset of epilepsy (SMD= -0.15, CI: -0.30 - -0.0002), depression (OR=6.85, CI: 4.88-9.62), and anxiety (OR=3.76, CI: 2.92-4.84) were identified as significant risk factors of SRE.
SIGNIFICANCE
There are many risk factors for SRE in PWE, as outlined above. Interventions targeting these risk factors may help reduce the risk of SRE in PWE.
PubMed: 38908144
DOI: 10.1016/j.seizure.2024.06.016 -
Seizure Jun 2024Sleep disturbances significantly impact the lives of individuals with Juvenile Myoclonic Epilepsy (JME). This study aimed to investigate sleep studies, disturbances, and... (Review)
Review
Sleep disturbances significantly impact the lives of individuals with Juvenile Myoclonic Epilepsy (JME). This study aimed to investigate sleep studies, disturbances, and the impact of anti-seizure drugs on sleep in JME patients. Relevant studies were retrieved from the National Library of Medicine (Pubmed) database and the Cochrane Library utilizing the search terms "Juvenile Myoclonic Epilepsy" and "sleep". A total of 160 papers' review, data extraction, and resolution of discrepancies were performed independently by two reviewers according to the PRISMA protocol and were registered in PROSPERO (CRD42023472439). A systematic review of 31 studies was conducted, encompassing various methodologies, including sleep questionnaires (Pittsburgh Sleep Quality Index (n = 13), Epworth Sleepiness Scale (n = 10)), polysomnography (n = 8), EEG (n = 9), actigraphy (n = 1), and transcranial magnetic stimulation (n = 1). Most studies were hospital-based (n = 31), cross-sectional (n = 11), and prospective (n = 25). Patients with JME exhibit a higher prevalence of sleep disturbances, worse quality of sleep (n = 4), daytime sleepiness (n = 2), sleep efficiency (n = 7), and increased sleep latency (n = 1) compared to controls. These disruptions are characterized by increased wakefulness (n = 3), frequent arousals (n = 3), decreased REM sleep (n = 2), and conflicting NREM sleep findings (n = 3). Additional sleep-related issues observed in JME patients include insomnia (n = 1) and increased prevalence of parasomnias such as nightmares and sleep talking. Periodic limb movement and obstructive sleep apnea are similar or less frequent (3/28). REM behavioral disorders and sleepwalking were not seen. Valproate showed conflicting effects on sleep (n = 7), while levetiracetam did not impact sleep (n = 1). These findings underlined the need for more sufficient evidence of sleep studies in JME. Future research should prioritize understanding the nature of sleep in JME and its impact on management.
PubMed: 38908143
DOI: 10.1016/j.seizure.2024.05.014 -
Clinical Psychology Review Jun 2024The purpose of this systematic review was to evaluate stigma and Functional Neurological Disorder (FND) regarding: 1) prevalence and associated factors, 2) the nature... (Review)
Review
OBJECTIVE
The purpose of this systematic review was to evaluate stigma and Functional Neurological Disorder (FND) regarding: 1) prevalence and associated factors, 2) the nature and context of stigma in FND, and 3) stigma-reduction interventions.
METHODS
We searched four relevant databases from inception to December 2023, using search terms relevant to FND and stigma themes. We employed the method of synthesis by "aggregation and configuration" to synthesise and analyse the data into emergent themes.
RESULTS
We found 127 studies, spanning 148 countries, involving 18,886 participants. Of these, 4889 were patients, 13,123 were healthcare professionals, and 526 were caregivers. Quantitatively, stigma has been mainly studied in patients with functional seizures, and was higher than patients with epilepsy in three studies. Stigma experienced by patients is associated with poorer quality of life and caregiver burden. We found 10 themes and 29 subthemes revealing stigma as a systemic process, with intrapersonal, interpersonal and structural aspects. Few studies examined the perspective of caregivers, the public or online community. We identified six anti-stigma interventions.
CONCLUSION
Stigma in FND is a layered process, and affects patient quality of life and provision of care. Stigma needs to be addressed from the top structures, at governmental level, so that appropriate care pathways can be created, giving patients with FND parity of esteem with other medical conditions.
PubMed: 38905960
DOI: 10.1016/j.cpr.2024.102460 -
Frontiers in Psychiatry 2024Poor sleep quality impedes the progression of chronic illnesses, while chronic illnesses themselves are caused by poor sleep quality. Despite this fact, there is no...
BACKGROUND
Poor sleep quality impedes the progression of chronic illnesses, while chronic illnesses themselves are caused by poor sleep quality. Despite this fact, there is no research that has been conducted in Ethiopia that provides a thorough estimate of the self-reported sleep quality among patients with chronic illnesses. In order to present a complete picture of poor sleep quality among diabetes, hypertension, heart failure, cancer, HIV/AIDS and epilepsy patients, this systematic review and meta-analysis was carried out.
METHODS
Systematic review and meta-analysis was conducted to estimate the quality of sleep among patients with chronic illness in Ethiopia. The Preferred Reporting Items for Systematic Review and Meta Analysis standard was followed in the reporting of this systematic review and meta-analysis. An extensive exploration of digital repositories, including PubMed, EMBASE, Cochrane, Africa Journal of Online, Google Scholar, and an advanced Google search, was conducted to obtain published studies until December 1st, 2023 detailing poor sleep quality of patients with chronic illness. STATA version 17 commands were used to create the pooled estimate. The I test and Egger's test, respectively, were used to identify the presence of heterogeneity and publication bias. To manage heterogeneity, a subgroup analysis and random effect model were used.
RESULTS
A total 21 articles with a total of 7393 participants were included in the final systematic review and meta-analysis. The pooled estimate of poor sleep quality among patients with chronic illness was 52% (95% of CI: 48%, 59%; I 97.26%). In subgroup analysis, the highest pooled estimate of poor sleep quality was observed in cancer patients 63% (95% CI: (95% CI: 45% - 80%). Regarding to data collection period, the highest pooled estimate of poor sleep quality was seen during spring 68% (95% CI: 42% - 94%).
CONCLUSIONS
Patients with chronic illnesses in Ethiopia had a high pooled estimate of poor sleep quality. Patients with cancer had the highest pooled estimate of poor-quality sleep compared with other patients. Patients with chronic illnesses had trouble sleeping in the spring, according to this systematic review and meta-analysis. Therefore, attention and intervention should be given to enhance the quality of sleep for patients with chronic illnesses.
PubMed: 38881551
DOI: 10.3389/fpsyt.2024.1365463 -
The Lancet. Psychiatry Jul 2024Cognition is a core component of functional seizures, but the literature on cognition in this disorder has been heterogeneous, with no clear unifying profile emerging... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Cognition is a core component of functional seizures, but the literature on cognition in this disorder has been heterogeneous, with no clear unifying profile emerging from individual studies. The aim of this study was to do a systematic review and meta-analysis of cognitive performance in adults with functional seizures compared with epilepsy (including left temporal lobe epilepsy) and compared with healthy non-seizure cohorts.
METHODS
In this systematic review and meta-analysis, starting Feb 6, 2023, replicated and updated on Oct 31, 2023, a medical librarian searched MEDLINE, Embase, PsycINFO, and Web of Science. Inclusion criteria were full reports documenting raw or standardised cognitive test data in adults with functional seizures compared with adults with epilepsy, prospectively recruited healthy comparisons, or published norms. Grey literature was retained and there were no language or date restrictions. We excluded studies only reporting on mixed functional seizures and epilepsy, or mixed functional neurological samples, with no pure functional seizures group. Risk of bias was evaluated using a modified version of the Newcastle-Ottawa Scale. People with lived experiences were not involved in the design or execution of this study. This study is registered as CRD42023392385 in PROSPERO.
FINDINGS
Of 3834 records initially identified, 84 articles were retained, including 8654 participants (functional seizures 4193, epilepsy 3638, and healthy comparisons 823). Mean age was 36 years (SD 12) for functional seizures, 36 years (12) for epilepsy, and 34 years (10) for healthy comparisons, and the proportion of women per group was 72% (range 18-100) for functional seizures, 59% (range 15-100) for epilepsy, and 69% (range 34-100) for healthy comparisons. Data on race or ethnicity were rarely reported in the individual studies. Risk of bias was moderate. Cognitive performance was better in people with functional seizures than those with epilepsy (Hedges' g=0·17 [95% CI 0·10-0·25)], p<0·0001), with moderate-to-high heterogeneity (Q[56]=128·91, p=0·0001, I=57%). The functional seizures group performed better than the epilepsy group on global cognition and intelligence quotient (g=0·15 [0·02-0·28], p=0·022) and language (g=0·28 [0·14-0·43], p=0·0001), but not other cognitive domains. A larger effect was noted in language tests when comparing functional seizures with left temporal lobe epilepsy (k=5; g=0·51 [0·10 to 0·91], p=0·015). The functional seizures group underperformed relative to healthy comparisons (g=-0·61 [-0·78 to -0·44], p<0·0001), with significant differences in all cognitive domains. Meta regressions examining effects of multiple covariates on global cognition were not significant.
INTERPRETATION
Patients with functional seizures have widespread cognitive impairments that are likely to be clinically meaningful on the basis of moderate effect sizes in multiple domains. These deficits might be slightly less severe than those seen in many patients with epilepsy but nevertheless argue for consideration of clinical assessment and treatment.
FUNDING
Department of Veterans Affairs, Veterans Health Administration.
Topics: Humans; Epilepsy; Seizures; Cognition; Adult; Female; Neuropsychological Tests
PubMed: 38879275
DOI: 10.1016/S2215-0366(24)00132-9 -
Neurology Jul 2024
Meta-Analysis
PubMed: 38870467
DOI: 10.1212/WNL.0000000000209579 -
Neurologia I Neurochirurgia Polska 2024Drug-resistant epilepsy (DRE) remains poorly-controlled in c.33% of patients, and up to 50% of patients suffering from DRE are deemed not to be suitable candidates for... (Review)
Review
INTRODUCTION
Drug-resistant epilepsy (DRE) remains poorly-controlled in c.33% of patients, and up to 50% of patients suffering from DRE are deemed not to be suitable candidates for resective surgery. For these patients, deep brain stimulation (DBS) may constitute the last resort in the treatment of DRE.
STATE OF THE ART
We undertook a systematic review of the current literature on DBS efficacy and the safety of two thalamic nuclei-anterior nucleus of the thalamus (ANT) and the centromedian nucleus of the thalamus in the management of patients with DRE. A search using two electronic databases, the Medical Literature, Analysis, and Retrieval System on-line (MEDLINE) and the Cochrane Central Register of Controlled Trials (CEN-TRAL) was conducted.
CLINICAL IMPLICATIONS
We found 30 articles related to ANT DBS and 13 articles related to CMN DBS which were further analysed. Based on the clinical research articles, we found a mean seizure frequency reduction for both thalamic nuclei. For ANT DBS, the mean seizure frequency reduction ranged from 48% to 75%, and for CMN DBS from 46.7% to 91%. The responder rate (defined as at least 50% reduction in seizure frequency) was reported to be 53.2-75% for patients after ANT DBS and 50-90% for patients after CMN DBS.
FUTURE DIRECTIONS
ANT and CMN DBS appear to be safe and efficacious treatments, particularly in patients with refractory partial seizures and primary generalised seizures. ANT DBS reduces most effectively seizures originating in the temporal and frontal lobes. CMN DBS reduces mostly primary generalised tonic-clonic and atypical absences and atonic seizures. Seizures related to Lennox-Gastaut syndrome respond very favourably to CMN DBS.
Topics: Humans; Deep Brain Stimulation; Drug Resistant Epilepsy; Anterior Thalamic Nuclei; Intralaminar Thalamic Nuclei; Treatment Outcome
PubMed: 38864766
DOI: 10.5603/pjnns.98258 -
Frontiers in Neurology 2024Refractory (RSE) and super-refractory status epilepticus (SRSE) are serious neurological conditions requiring aggressive management. Beyond anesthetic agents, there is a...
BACKGROUND
Refractory (RSE) and super-refractory status epilepticus (SRSE) are serious neurological conditions requiring aggressive management. Beyond anesthetic agents, there is a lack of evidence guiding management in these patients. This systematic review and individual participant data meta-analysis (IPDMA) seeks to evaluate and compare the currently available surgical techniques for the acute treatment of RSE and SRSE.
METHODS
A systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Individual Participant Data (PRISMA-IPD). Only patients who underwent surgery while in RSE and SRSE were included. Descriptive statistics were used to compare various subgroups. Multivariable logistic regression models were constructed to identify predictors of status epilepticus (SE) cessation, long-term overall seizure freedom, and favorable functional outcome (i.e., modified Rankin score of 0-2) at last follow-up.
RESULTS
A total of 87 studies including 161 participants were included. Resective surgery tended to achieve better SE cessation rate (93.9%) compared to non-resective techniques (83.9%), but this did not reach significance ( = 0.071). Resective techniques were also more likely to achieve seizure freedom (69.1% vs. 34.4%, = <0.0001). Older age at SE (OR = 1.384[1.046-1.832], = 0.023) was associated with increased likelihood of SE cessation, while longer duration of SE (OR = 0.603[0.362-1.003], = 0.051) and new-onset seizures (OR = 0.244[0.069-0.860], = 0.028) were associated with lower likelihood of SE cessation, but this did not reach significance for SE duration. Only shorter duration of SE prior to surgery (OR = 1.675[1.168-2.404], = 0.0060) and immediate termination of SE (OR = 3.736 [1.323-10.548], = 0.014) were independently associated with long-term seizure status. Rates of favorable functional outcomes (mRS of 0-2) were comparable between resective (44.4%) and non-resective (44.1%) techniques, and no independent predictors of outcome were identified.
CONCLUSION
Our findings suggest that emergency neurosurgery may be a safe and effective alternative in patients with RSE/SRSE and may be considered earlier during the disease course. However, the current literature is limited exclusively to small case series and case reports with high risk of publication bias. Larger clinical trials assessing long-term seizure and functional outcomes are warranted to establish robust management guidelines.
PubMed: 38863514
DOI: 10.3389/fneur.2024.1403266 -
Digestive Diseases (Basel, Switzerland) Jun 2024Celiac disease is an autoimmune condition that affects approximately 1% of the population worldwide. Although its main impact often concerns the small intestine,...
Celiac disease is an autoimmune condition that affects approximately 1% of the population worldwide. Although its main impact often concerns the small intestine, resulting in villous atrophy and nutrient malabsorption, it can also cause systemic manifestations, particularly when undiagnosed or left untreated. Here, attention is paid to the possible psychological, psychiatric, and organic brain manifestations of celiac disease. Specific topics related to the influence and risk of such manifestations with respect to celiac disease are defined and discussed. Overall, eighteen main topics are considered, sifted from over 500 references. The most often studied topics were found to be the effect on quality of life, organic brain dysfunction and ataxia, epilepsy, Down syndrome, generalized psychological disorders, eating dysfunction, depression, and schizophrenia. For most every topic, although many studies report a connection to celiac disease, there are often one or more contrary studies and opinions. A bibliographic analysis of the cited articles was also done. There has been a sharp increase in interest in this research since 1990. Recently published articles tend to receive more referencing, up to as many as 15 citations per year, suggesting an increasing impact of the topics. The number of manuscript pages per article has also tended to increase, up to as many as 12 pages. The impact factor of the publishing journal has remained level over the years. This compendium may be useful in developing a consensus regarding psychological, psychiatric, and organic brain manifestations that can occur in celiac disease, and for determining the best direction for ongoing research focus.
PubMed: 38861947
DOI: 10.1159/000534219