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1.
Rev Neurosci ; 2024 Jan 25.
Artículo en Inglés | MEDLINE | ID: mdl-38278624

RESUMEN

Cerebral vasospasm and delayed cerebral ischemia represent a very challenging aspect of cerebrovascular pathophysiology, most commonly subarachnoid hemorrhage, with significantly high mortality if left untreated. Considerable advances have been made in medical treatment and prompt diagnosis, while newer endovascular modalities have recently been proposed for cases of resistant cerebral vasospasm. However, there is still paucity of data regarding which and whether a single endovascular technique is non inferior to the pharmacological standard of care. In this review, we aim to summarize the current funds of knowledge concerning cerebral vasospasm and the emerging role of the endovascular techniques for its treatment.

2.
Rev Neurosci ; 2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-38158880

RESUMEN

Giant intracranial aneurysms represent a very challenging aspect of aneurysmal pathophysiology with very high mortality and morbidity if left untreated. Their variety in clinical presentation (subarachnoid hemorrhage, cranial nerve palsy, etc.) and pathological and imaging properties (location, anatomy, presence of collateral circulation) pose serious questions regarding the best treatment option. Admirable advances have been achieved in surgical techniques, while endovascular modalities with flow diversion techniques have become widely used. However, there is still lack of data regarding whether a single endovascular technique can be the universal treatment for such cases. In this review, we aim to summarize the current funds of knowledge concerning giant intracranial aneurysms and the role of endovascular management in their treatment.

3.
Int J Neurosci ; : 1-4, 2023 Oct 28.
Artículo en Inglés | MEDLINE | ID: mdl-37897491

RESUMEN

BACKGROUND: Extracranial internal carotid aneurysms consist a rare pathology with an overall incidence less than 1% in the general population, and warrant treatment due to their association with cerebrovascular events and neurological complications. The incidence is even lower in the pediatric population. CASE REPORT: A 14-month infant presented in our clinic with neck swelling of unknown origin, with subsequent MR imaging revealing an extracranial internal carotid aneurysm. Due to the patient's age and risk of surgical complications, the decision to proceed with endovascular repair with stent placement and complete exclusion of the aneurysm from the circulation was made, after multidisciplinary consultation. RESULTS: In the pediatric population, pediatric population, endovascular stent placement can be considered at least as a last resort treatment when surgical access harbors significant risks or is impossible.

4.
J Integr Neurosci ; 22(4): 106, 2023 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-37519183

RESUMEN

BACKGROUND: Microglial activation is considered to assume a role in the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). To date, the relationship between ALS and the rs3865444 polymorphism of the cluster of differentiation 33 (CD33) has not been explored. The current report aimed to investigate the potential connection between CD33 rs3865444 and ALS. METHODS: Patients diagnosed with sporadic ALS according to the revised El Escorial criteria, as well as age and sex matched community controls, were enrolled. Two evenly numbered, age and sex matched groups of 155 participants each were genotyped. RESULTS: No association was found between rs3865444 and ALS [log-additive odds ratio (OR) = 0.83 (0.57, 1.22), over-dominant OR = 0.86 (0.55, 1.36), recessive OR = 0.73 (0.25, 2.17), dominant OR = 0.82 (0.52, 1.29), co-dominant OR1 = 0.68 (0.23, 2.05) and co-dominant OR2 = 0.84 (0.53, 1.33)]. Moreover, no relationship was established between rs3865444 and the age of ALS onset based on both unadjusted and sex adjusted Cox-proportional hazards models. Finally, no association between rs3865444 and ALS was found in subgroup analyses based on the site of ALS onset (bulbar or spinal) and sex. CONCLUSIONS: The current analysis is the first to report that rs3865444 is not linked to ALS. Larger multi-racial studies are required to confirm these findings.


Asunto(s)
Esclerosis Amiotrófica Lateral , Humanos , Esclerosis Amiotrófica Lateral/genética , Estudios de Casos y Controles , Lectina 3 Similar a Ig de Unión al Ácido Siálico
5.
Ther Adv Neurol Disord ; 16: 17562864231180717, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37342814

RESUMEN

Cancer-related stroke (CRS), referring to ischemic stroke occurring in cancer patients without other clear etiology, represents a clinical challenge, as it is associated with unfavorable clinical outcomes including high rates of recurrence and mortality. There are scarce international recommendations and limited consensus statements on CRS management. For this comprehensive overview, the available studies/reviews/meta-analyses on the use of acute reperfusion and secondary prevention treatments for cancer patients with ischemic stroke, focusing on antithrombotic agents, were collected and summarized. A practical management algorithm was designed per the available data. In short, acute reperfusion in the form of intravenous thrombolysis and mechanical thrombectomy appears to be safe in CRS and can be considered for eligible patients, though the functional outcomes are often poor, and mostly defined by the preexisting condition. Many patients carry indications for anticoagulation, in which case vitamin K antagonists are not preferred, while low-molecular weight heparins remain the treatment of choice; direct oral anticoagulants can be alternatively considered but are contraindicated for gastrointestinal malignancies. For patients without clear anticoagulation indications, no net benefit for anticoagulation compared to aspirin has been shown. Other targeted treatment options should be evaluated in an individualized approach, alongside the appropriate management of conventional cerebrovascular risk factors. Oncological treatment should be swiftly initiated/continued. In conclusion, acute CRS remains a clinical challenge, with many patients suffering recurrent stroke, despite preventive measures. More randomized-controlled clinical trials are urgently needed to pinpoint the most effective management options for this subset of stroke patients.

6.
Antioxidants (Basel) ; 12(5)2023 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-37237973

RESUMEN

UV radiation (UVR) is responsible for inducing both harmful and beneficial effects on skin health. Specifically, it has been reported to disrupt oxidant and antioxidant levels, leading to oxidative stress conditions in skin tissue. This phenomenon might trigger photo-carcinogenesis, resulting in melanoma, NMSC (non-melanoma skin cancer), such as BCC (basal cell carcinoma) and SCC (squamous cell carcinoma), and actinic keratosis. On the other hand, UVR is essential for the production of adequate vitamin D levels, a hormone with important antioxidant, anticancer and immunomodulatory properties. The exact mechanisms implicated in this two-fold action are not well understood, as there still no clear relation established between skin cancer and vitamin D status. Oxidative stress seems to be a neglected aspect of this complex relation, despite its role in both skin cancer development and vitamin D deficiency. Therefore, the aim of the present study is to examine the correlation between vitamin D and oxidative stress in skin cancer patients. A total of 100 subjects (25 with SCC, 26 with BCC, 23 with actinic keratosis, and 27 controls) were assessed in terms of 25-hydroxyvitamin D (25(OH) D) and redox markers such as thiobarbituric acid reactive substances (TBARS), protein carbonyls, total antioxidant capacity (TAC) in plasma, glutathione (GSH) levels and catalase activity in erythrocytes. The majority of our patients revealed low vitamin D levels; 37% of the subjects showed deficiency (<20 ng/mL) and 35% insufficiency (21-29 ng/mL). The mean 25(OH) D level of the NMSC patients (20.87 ng/mL) was also found to be significantly lower (p = 0.004) than that of the non-cancer patients (28.14 ng/mL). Furthermore, higher vitamin D levels were also correlated with lower oxidative stress (positive correlation with GSH, catalase activity TAC index and negative correlation with TBARS and CARBS indices). NMSC patients diagnosed with SCC showed lower catalase activity values compared to non-cancer patients (p < 0.001), with the lowest values occurring in patients with a chronic cancer diagnosis (p < 0.001) and vitamin D deficiency (p < 0.001). Higher GSH levels (p = 0.001) and lower TBARS levels (p = 0.016) were found in the control group compared to the NMSC group, and to patients with actinic keratosis. Higher levels of CARBS were observed in patients with SCC (p < 0.001). Non-cancer patients with vitamin D sufficiency showed higher TAC values compared to non-cancer patients with vitamin D deficiency (p = 0.023) and to NMSC patients (p = 0.036). The above-mentioned results indicate that NMSC patients reveal increased levels of oxidative damage markers compared to control levels, while vitamin D status plays a critical role in the determination of individuals' oxidative status.

7.
Int J Neurosci ; : 1-3, 2023 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-37099671

RESUMEN

We present a case of a 67-year-old female patient, who presented with acute cortical blindness five days after a successful resuscitation from cardiac arrest. The magnetic resonance tomography revealed a mild FLAIR signal increase of the bilateral occipital cortex. A lumbar puncture revealed considerably elevated tau protein levels, in the presence of normal phospho-tau, as a marker of brain injury, whilst neuron-specific enolase levels were normal. The diagnosis of delayed post-hypoxic encephalopathy was set. We hereby describe a rare clinical manifestation after initially successful resuscitation and encourage the studying of tau protein as a potential marker of this disease entity.

8.
Environ Res ; 229: 115442, 2023 07 15.
Artículo en Inglés | MEDLINE | ID: mdl-36758916

RESUMEN

Pesticides are a heterogeneous class of chemicals mainly used for the protection of crops from pests. Because of their very widespread use, acute or/and chronic exposure to these chemicals can lead to a plethora of sequelae inflicting diseases, many of which involve the nervous system. Tremor has been associated with pesticide exposure in human and animal studies. This review is aimed at assessing the studies currently available on the association between the various types of pesticides/insecticides and tremor, while also accounting for potential confounding factors. To our knowledge, this is the first coherent review on the subject. After appraising the available evidence, we call for more intensive research on this topic, as well as intonate the need of implementing future preventive measures to protect the exposed populations and to reduce potential disabilities and social drawbacks.


Asunto(s)
Insecticidas , Plaguicidas , Animales , Humanos , Plaguicidas/toxicidad , Temblor/inducido químicamente , Productos Agrícolas
9.
Int J Neurosci ; 133(7): 770-781, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34511017

RESUMEN

INTRODUCTION: The formation of intracranial aneurysms (IAs) has been associated with genetic polymorphisms. A few genome-wide (GWAS) and candidate gene association studies (CGAS) have reported that single nucleotide polymorphisms (SNPs) in locus 9p21 have been associated with the formation of IAs. MATERIALS & METHODS: We performed a meta-analysis of case-control studies to investigate the association of two SNPs (rs1333040, rs10757278), located at the 9p21 locus, with the formation of IAs. MEDLINE, EMBASE, Google Scholar and CENTRAL databases were comprehensively searched. RESULTS: For the rs1333040 (C > T) polymorphism, a significant association with IA was observed in the dominant [OR (95% CI): 1.39 (1.24, 1.56); Pz < 0.00001], recessive [OR (95% CI): 1.38 (1.28, 1.49); Pz < 0.00001] and over-dominant [OR (95% CI): 0.85 (0.79, 0.91); Pz < 0.00001] models. For the rs10757278(A > G) SNP, we observed a statistically significant association with IAs in the dominant [OR (95% CI): 1.41 (1.28, 1.56); Pz < 0.01] and recessive [OR (95% CI): 1.42 (1.29, 1.56); Pz < 0.01] models, while statistical significance was not revealed in the over-dominant model [OR (95% CI): 1.01 (0.93, 1.10); Pz=0.83]. DISCUSSION: A possible association between the two SNPs and IAs was indicated. The associations reported by our meta-analysis need to be further studied and validated by larger CGAS and GWAS.


Asunto(s)
Aneurisma Intracraneal , Humanos , Aneurisma Intracraneal/genética , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple/genética , Estudios de Casos y Controles , Nucleotidiltransferasas/genética
10.
Neurol Int ; 14(4): 991-996, 2022 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-36548183

RESUMEN

(1) Introduction: There have been numerous reports on the neuroinvasive competence of SARS-CoV-2. Here, we present a case with anti-MOG positive bilateral optic neuritis and brainstem encephalitis secondary to COVID-19 infection. Additionally, we present a review of the current literature regarding the manifestation of anti-MOG positive optic neuritis as well as anti-MOG positive encephalitis after COVID-19 infection. (2) Case Report: A 59-year-old female patient, with a recent history of COVID-19 infection, presented a progressive reduction of visual acuity and bilateral retrobulbar pain for the last 20 days. An ophthalmological examination revealed a decreased visual acuity (counting fingers) and a bilateral papilledema. An MRI scan of the brain revealed a mild thickening of the bilateral optic nerves and high-intensity lesions in the medial and right lateral pons. A high titer of IgG and IgM antibodies against SARS-CoV-2 in serum and antibodies against myelin oligodendrocyte glycoprotein (anti-MOG) in serum and CSF were revealed. The diagnosis of anti-MOG brainstem encephalitis and optic neuritis was set. (3) Conclusions: The history of COVID-19 infection should raise awareness about these autoimmune and infection-triggered diseases, such as anti-MOG antibody disease.

11.
Int J Mol Sci ; 23(22)2022 Nov 19.
Artículo en Inglés | MEDLINE | ID: mdl-36430879

RESUMEN

Various studies have been conducted, exploring the genetic susceptibility of Alzheimer's disease (AD). Adenosine receptor subtype A2a (ADORA2A) and cytochrome P450 1A2 (CYP1A2) are implicated in pathways such as oxidative stress and caffeine metabolism, which are associated with AD. The aim of this study was to explore for any potential association between the ADORA2A rs5760423 and the CYP1A2 rs762551 genetic variants and AD. A case-control study was performed with a total of 654 subjects (327 healthy controls and 327 patients with AD). Five genetic models were assumed. We also examined the allele-allele combination of both variants. The value of 0.05 was considered as the statistical significance threshold. A statistically significant association was found between ADORA2A rs5760423 and AD, as the "T" allele was associated with increased AD risk in recessive (OR = 1.51 (1.03-2.21)) and log-additive (OR = 1.30 (1.04-1.62)) genetic modes. In the codominant model, the TT genotype was more prevalent compared to the GG genotype (OR = 1.71 (1.09-2.66)). The statistical significance was maintained after adjustment for sex. No association between CYP1A2 rs762551 or allele-allele combination and AD was detected. We provide preliminary indication for a possible association between the ADORA2A rs5760423 genetic polymorphism and AD.


Asunto(s)
Enfermedad de Alzheimer , Citocromo P-450 CYP1A2 , Humanos , Citocromo P-450 CYP1A2/genética , Enfermedad de Alzheimer/genética , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Alelos
12.
Int J Neurosci ; : 1-9, 2022 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-36408688

RESUMEN

INTRODUCTION: Rare coding variants in TREM2 and their association with the susceptibility towards Alzheimer's disease (AD) were recently studied in various ethnic groups with contradictory results. The T allele of the rs75932628 (p.R47H variant) has shown a positive risk association with AD in several studies; however, neither a study in Greece nor an updated meta-analysis have been conducted. OBJECTIVE: To assess the association between TREM2 rs75932628 and late-onset (sporadic) AD in a Greek population, and perform a meta-analysis of current data. MATERIALS AND METHODS: The rs75932628 was genotyped in a total of 327 patients with AD and 700 cognitively healthy controls. A systematic search and meta-analyses of studies presenting data regarding rs75932628 in AD cases and controls were also performed. RESULTS: Three patients vs. none of the controls were found to carry the heterozygous risk allele of the rs75932628, yielding a significant association (p = 0.032), in the Greek sample. In the meta-analysis, the overall odds ratio (OR) under a fixed-effects model was 2.98 (Confidence Interval (CI):2.52-3.53) showing a significant association of the rs75932628-T allele with AD in the overall dataset, based on data from 27 studies (26200 AD cases and 142084controls). Caucasian population-only studies (n = 16) revealed a similar OR of 2.93 (CI:2.45-3.51), whereas Asian population-only studies (n = 5) had a non-significant OR of 0.84 (CI:0.19-3.74). CONCLUSION: The rs75932628 was associated with AD in the Greek sample. Our meta-analysis, covering a total population of over 168,000 people, also showed a significant association of the allele with AD in Caucasian populations.

13.
Curr Issues Mol Biol ; 44(10): 4406-4414, 2022 Sep 21.
Artículo en Inglés | MEDLINE | ID: mdl-36286017

RESUMEN

A few gene loci that contribute to Alzheimer's Disease (AD) onset have been identified. Few studies have been published about the relationship between SOD2 rs4880 single nucleotide variant and AD, revealing inconsistent results. Therefore, the aim of the current study is to further examine the role of the SOD2 rs4880 in AD. We performed a case-control study with a total of 641 subjects (320 patients with probable AD, and 321 healthy controls). The statistical analysis was performed assuming five genetic models. The threshold for statistical significance was set at 0.05. The results revealed no association between SOD2 rs4880 and AD in any of the assumed genetic models that were examined [log-additive OR = 0.95 (0.76-1.19), over-dominant OR = 1.15 (0.85-1.57), recessive OR = 0.85 (0.59-1.22), dominant OR = 1.03 (0.72-1.47), and co-dominant OR1 = 1.10 (0.75-1.60) and OR2 = 0.90 (0.58-1.40)]. Adjustment for sex and subgroup analyses based on sex did not reveal any statistically significant results either. Based on our findings, SOD2 rs4880 does not appear to play a determining role in the risk of developing AD. Larger studies are warranted to elucidate the connection between rs4880 and AD.

14.
J Clin Med ; 11(16)2022 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-36012933

RESUMEN

BACKGROUND: Ischemic stroke is a common occurrence in patients with concomitant malignancy. Systemic thrombolysis is often contraindicated in these patients, and mechanical thrombectomy (MT) is the preferred method of intervention. This review aims to collect the available data on the safety and efficacy of MT in cancer patients (CPs). METHODS: The PubMed/MEDLINE and SCOPUS databases were systematically searched for studies assessing safety (mortality, intracranial hemorrhage) and efficacy (reperfusion, functional outcome) indices in CPs receiving MT. Potentially relevant parameters examined in solitary studies were also extracted (e.g., stroke recurrence, brain malignancy). RESULTS: A total of 18 retrospective studies of various methodologies and objectives were identified. Rates of in-hospital mortality, intracranial hemorrhage of any kind, reperfusion rates, and discharge condition did not seem to present any considerable differences between CPs and patients without cancer. On the contrary, 90-day mortality was higher and 90-day functional independence was lower in CPs. Three studies on cancer-related stroke (no other identifiable etiology and high D-dimer levels in the presence of active cancer) showed constant tendencies towards unfavorable conditions. CONCLUSIONS: Per the available evidence, MT appears to be a safe treatment option for CPs. It is still unclear whether the 90-day mortality and outcome rates are more heavily influenced by the malignancy and not the intervention itself, so MT can be considered in CPs with prospects of a good functional recovery, undertaking an individualized approach.

15.
Int J Neurosci ; : 1-11, 2022 Aug 09.
Artículo en Inglés | MEDLINE | ID: mdl-35924588

RESUMEN

Background-Purpose: Low serum vitamin D (VD) has been already associated with a series of highly prevalent pain-related conditions, including fibromyalgia, migraine and chronic widespread pain. Considering the potential interplay between VD and pain signalling pathways, the association of VD with tension-type headache (TTH) was reviewed.Methods: A multifaceted narrative approach assessing the relationship of serum VD with TTH and TTH parameters, as well as the efficacy of VD supplementation for the prevention of TTH, was fostered. MEDLINE, CENTRAL and EMBASE were comprehensively searched for this purpose, while Google Scholar was also explored according to a structured approach. ClinicalTrials.gov and European Union Clinical Trials Register were explored for ongoing prevention trials.Results: Although available evidence was suggestive of an association between VD and TTH, mainly of the chronic type, the causal nature of the association remains to be determined. Considering the lack of longitudinal evidence, this relationship could arguably reflect behavioural patterns of headache sufferers. On the other hand, evidence principally originated from tertiary clinical settings (severe comorbidity burden) and researchers tend to report a concomitant association of both entities with generalized musculoskeletal compromise. In this context, the association between TTH and VD may represent nothing more than a secondary by-product of the simultaneous relationship of other comorbid diseases-conditions with both TTH and low serum VD. Regarding its efficacious properties, only one ongoing trial specifically designed to explore the efficacy of VD in chronic TTH in adults was retrieved.Conclusions: There is no evidenced based indication for VD supplementation in TTH.

16.
Mult Scler Relat Disord ; 64: 103940, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35679782

RESUMEN

BACKGROUND: Multiple Sclerosis (MS) is the most common autoimmune disease of the central nervous system. Up to this day, no single accurate prognostic biomarker has been established in this disease. Neurofilaments are neuronal scaffold proteins released upon axonal damage and have gained attention as potential biomarkers in MS. METHODS: Neurofilament light-chain (NfL) levels were measured in the cerebrospinal fluid (CSF) of 83 MS patients at their first hospital admission. The patients were longitudinally followed up and EDSS assessments (MS disability) were performed. MSSS scores (MS severity) were also calculated. For disability, patients were allocated to a benign (EDSS≤3) and non-benign course (EDSS>3), and for severity, to benign, moderate, and severe disease courses (benign: 0-1.999, moderate: 2-6.999, severe: 7-10). RESULTS: NfL levels ranged between 185.8 and 24,440.0 ng/dl (median=995.8 ng/dl, mean=2032.9 ng/dl ±3107.8). The mean follow-up was 12.3 years (±6.7), ranging between 2 and 41 years (median=11 years). No significant association was found between NfL levels and age of onset (p = 0.858), disability (OR benign vs. non-benign: 0.916, p = 0.725), or severity (OR moderate vs. benign: 1.077, p = 0.791, OR severe vs. benign: 1.163, p = 0.642). A significant association was found between older age of onset and disability (OR benign vs. non-benign: 1.073, p = 0.005), and severity (OR moderate vs. benign: 1.063, p = 0.039, OR severe vs. benign: 1.122, p = 0.001). CONCLUSIONS: CSF NfL do not seem to be the ideal prognostic marker in MS. More research in this direction, with large follow-up periods, is needed to confirm our findings.


Asunto(s)
Esclerosis Múltiple , Axones , Biomarcadores/líquido cefalorraquídeo , Humanos , Filamentos Intermedios , Esclerosis Múltiple/líquido cefalorraquídeo , Esclerosis Múltiple/diagnóstico , Pronóstico
17.
Medicina (Kaunas) ; 58(4)2022 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-35454329

RESUMEN

The genetic basis of migraine is rather complex. The rs2651899 in the PR/SET domain 16 (PRDM16) gene, the rs10166942 near the transient receptor potential cation channel subfamily M member 8 (TRPM8) gene, and the rs11172113 in the LDL receptor-related protein 1 (LRP1) gene, have been associated with migraine in a genome-wide association study (GWAS). However, data from subsequent studies examining the role of these variants and their relationship with migraine remain inconclusive. The aim of the present study was to meta-analyze the published data assessing the role of these polymorphisms in migraine, migraine with aura (MA), and migraine without aura (MO). We performed a search in the PubMed, Scopus, Web of Science, and Public Health Genomics and Precision Health Knowledge Base (v7.7) databases. In total, eight, six, and six studies were included in the quantitative analysis, for the rs2651899, rs10166942, and rs11172113, respectively. Cochran's Q and I2 tests were used to calculate the heterogeneity. The random effects (RE) model was applied when high heterogeneity was observed; otherwise, the fixed effects (FE) model was applied. The odds ratios (ORs) and the respective 95% confidence intervals (CIs) were calculated to estimate the effect of each variant on migraine. Funnel plots were created to graphically assess publication bias. A significant association was revealed for the CC genotype of the rs2651899, with the overall migraine group (RE model OR: 1.32; 95% CI: 1.02−1.73; p-value = 0.04) and the MA subgroup (FE model OR: 1.40; 95% CI: 1.12−1.74; p-value = 0.003). The rs10166942 CT genotype was associated with increased migraine risk (FE model OR: 1.36; 95% CI: 1.18−1.57; p-value < 0.0001) and increased MO risk (FE model OR: 1.41; 95% CI: 1.17−1.69; p-value = 0.0003). No association was detected for the rs11172113. The rs2651899 and the rs10166942 have an effect on migraine. Larger studies are needed to dissect the role of these variants in migraine.


Asunto(s)
Proteínas de Unión al ADN , Proteína 1 Relacionada con Receptor de Lipoproteína de Baja Densidad , Trastornos Migrañosos , Canales Catiónicos TRPM , Factores de Transcripción , Estudios de Casos y Controles , Proteínas de Unión al ADN/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Proteína 1 Relacionada con Receptor de Lipoproteína de Baja Densidad/genética , Trastornos Migrañosos/genética , Polimorfismo de Nucleótido Simple , Canales Catiónicos TRPM/genética , Factores de Transcripción/genética
18.
J Integr Neurosci ; 21(2): 45, 2022 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-35364633

RESUMEN

Body dysmorphic disorder (BDD) is characterized by an individual's preoccupation with a perceived defect in their appearance which to others may be barely noticeable or even completely unnoticed. It confers significant disturbances of everyday functioning in affected persons. The present review study provides an overview of neuroimaging findings on BDD. Literature on three platforms, PubMed, Google Scholar and PsycArticles of APA PsycNet, was searched for studies on patients with BBD compared with healthy controls (HCs), with a focus on neuroimaging findings. Out of an initial yield of 414 articles, 23 fulfilled inclusion criteria and were reviewed. Among the most remarkable findings were functional abnormalities in visual processing, frontostriatal and limbic systems, reduced global efficiency of White Matter (WM) connectivity, reduced cortical thickness in temporal and parietal lobes, and correlations between these neuroimaging findings and clinical variables such as symptom severity and degree of insight. Structural, volumetric and functional neuroimaging findings in BDD affected persons may help shed light on the pathophysiology and neurobiological underpinnings of this condition. Future studies should further investigate the use of imaging findings as potential prognostic biomarkers of treatment efficacy and disease outcome.


Asunto(s)
Trastorno Dismórfico Corporal , Sustancia Blanca , Trastorno Dismórfico Corporal/diagnóstico por imagen , Humanos , Neuroimagen , Percepción Visual , Sustancia Blanca/diagnóstico por imagen
19.
Rev Neurosci ; 33(7): 703-720, 2022 10 26.
Artículo en Inglés | MEDLINE | ID: mdl-35258237

RESUMEN

The purpose of this review is to examine whether there is a possible (etiological/triggering) relationship between infection with various Coronaviruses, including Severe Acute Respiratory Syndrome-related Coronavirus-2 (SARS-CoV-2), the virus responsible for the Coronavirus disease-19 (Covid-19) pandemia, and Multiple Sclerosis (MS), and whether an increase of the prevalence of MS after the current Covid-19 pandemia should be expected, examining new and preexisting data. Although the exact pathogenesis of MS remains unknown, environmental agents seem to greatly influence the onset of the disease, with viruses being the most popular candidate. Existing data support this possible etiological relationship between viruses and MS, and experimental studies show that Coronaviruses can actually induce an MS-like demyelinating disease in animal models. Findings in MS patients could also be compatible with this coronaviral MS hypothesis. More importantly, current data from the Covid-19 pandemia show that SARS-CoV-2 can trigger autoimmunity and possibly induce autoimmune diseases, in the Central Nervous System as well, strengthening the viral hypothesis of MS. If we accept that Coronaviruses can induce MS, it is reasonable to expect an increase in the prevalence of MS after the Covid-19 pandemia. This knowledge is of great importance in order to protect the aging groups that are more vulnerable against autoimmune diseases and MS specifically, and to establish proper vaccination and health policies.


Asunto(s)
COVID-19 , Esclerosis Múltiple , Animales , COVID-19/epidemiología , Humanos , Esclerosis Múltiple/epidemiología , Pandemias , Prevalencia , SARS-CoV-2
20.
Mol Med Rep ; 25(4)2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35234271

RESUMEN

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Through a genome­wide association study (GWAS), the Sec1 family domain­containing protein 1 (SCFD1) rs10139154 variant at 14q12 has emerged as a risk factor gene for ALS. Moreover, it has been reported to influence the age at onset (AAO) of patients with ALS. The aim of the present study was to assess the association of the SCFD1 rs10139154 polymorphism with the risk of developing ALS. For this purpose, 155 patients with sporadic ALS and 155 healthy controls were genotyped for the SCFD1 rs10139154. The effect of the SCFD1 rs10139154 polymorphism was then examined on the following parameters: i) The risk of developing ALS; ii) the AAO of ALS; iii) the site of ALS onset (patients with bulbar onset ALS vs. healthy controls; and patients with limb onset ALS vs. healthy controls); and iv) the AAO of ALS onset with subgroup analyses based on the site of onset (bulbar and limb, crude and adjusted for sex). The analysis of all the outcomes was performed assuming five genetic models. Crude and adjusted analyses were applied. The threshold for statistical significance was set at 0.05. The results revealed no association between SCFD1 rs10139154 and any of the examined phenotypes in any of the models examined. On the whole, based on the findings of the present study, SCFD1 rs10139154 does not appear to play a determining role in the risk of developing ALS.


Asunto(s)
Proteínas Adaptadoras del Transporte Vesicular/genética , Esclerosis Amiotrófica Lateral , Enfermedades Neurodegenerativas , Esclerosis Amiotrófica Lateral/genética , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Polimorfismo de Nucleótido Simple
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