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1.
Epilepsia ; 65(3): 725-738, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38279904

ABSTRACT

OBJECTIVE: Bilateral tonic-clonic seizures with focal semiology or focal interictal electroencephalography (EEG) can occur in both focal and generalized epilepsy types, leading to diagnostic errors and inappropriate therapy. We investigated the prevalence and prognostic values of focal features in patients with idiopathic generalized epilepsy (IGE), and we propose a decision flowchart to distinguish between focal and generalized epilepsy in patients with bilateral tonic-clonic seizures and focal EEG or semiology. METHODS: We retrospectively analyzed video-EEG recordings of 101 bilateral tonic-clonic seizures from 60 patients (18 with IGE, 42 with focal epilepsy). Diagnosis and therapeutic response were extracted after ≥1-year follow-up. The decision flowchart was based on previous observations and assessed concordance between interictal and ictal EEG. RESULTS: Focal semiology in IGE was observed in 75% of seizures and 77.8% of patients, most often corresponding to forced head version (66.7%). In patients with multiple seizures, direction of head version was consistent across seizures. Focal interictal epileptiform discharges (IEDs) were observed in 61.1% of patients with IGE, whereas focal ictal EEG onset only occurred in 13% of seizures and 16.7% of patients. However, later during the seizures, a reproducible pattern of 7-Hz lateralized ictal rhythm was observed in 56% of seizures, associated with contralateral head version. We did not find correlation between presence of focal features and therapeutic response in IGE patients. Our decision flowchart distinguished between focal and generalized epilepsy in patients with bilateral tonic-clonic seizures and focal features with an accuracy of 96.6%. SIGNIFICANCE: Focal semiology associated with bilateral tonic-clonic seizures and focal IEDs are common features in patients with IGE, but focal ictal EEG onset is rare. None of these focal findings appears to influence therapeutic response. By assessing the concordance between interictal and ictal EEG findings, one can accurately distinguish between focal and generalized epilepsies.


Subject(s)
Epilepsy, Generalized , Epilepsy, Tonic-Clonic , Humans , Retrospective Studies , Software Design , Seizures/diagnosis , Epilepsy, Generalized/diagnosis , Epilepsy, Generalized/drug therapy , Electroencephalography , Immunoglobulin E/therapeutic use
2.
Epilepsia ; 2024 Sep 28.
Article in English | MEDLINE | ID: mdl-39340394

ABSTRACT

OBJECTIVE: This study was undertaken to assess the clinical utility, safety, and tolerability in epilepsy patients of ultra long-term monitoring with a novel subcutaneous electroencephalographic (EEG) device (sqEEG). METHODS: Five patients with drug-resistant focal epilepsy were implanted (one patient bilaterally) with sqEEG. In phase 1, we assessed sqEEG sensitivity for seizure recording by recording seizures simultaneously with scalp EEG in the epilepsy monitoring unit (EMU). sqEEG was scored either visually (v-sqEEG) or by using a semiautomatic algorithm (EpiSight; E-sqEEG). In phase 2, the patients were monitored as outpatients for 3-6 months. sqEEG data were analyzed monthly, evaluating concordance of data obtained by v-sqEEG, E-sqEEG, and patients' diaries. v-sqEEG data were used to guide treatment adjustments. sqEEG-related side effects were assessed throughout the study. RESULTS: In phase 1, v-sqEEG detected all seizures recorded in the EMU in all patients, whereas E-sqEEG was as effective in three patients. In the other two patients, E-sqEEG detected only a proportion or none of the seizures, respectively. Sensitivity of E-sqEEG depended on the ictal EEG features. In phase 2, a 100% concordance between E-sqEEG and v-sqEEG in seizure detection was observed for the same three patients as in phase 1. In the other two patients (one implanted bilaterally), effectiveness of E-sqEEG in detecting seizure as compared to v-sqEEG ranged from 0% to 83%. v-sqEEG showed that all patients reported in their diaries fewer seizures than they actually suffered. In four of five patients, v-sqEEG showed that the treatment adjustments had been ineffective or associated with a seizure increment. The only side effect was an infection at the implantation site in one patient. SIGNIFICANCE: The sqEEG system could collect reliable information on seizure activity, thus providing clinically relevant information. Sensitivity of EpiSight in detecting seizures varied across patients, depending on the ictal EEG features. sqEEG ultra long-term monitoring was feasible and well tolerated.

3.
J Biol Inorg Chem ; 28(2): 235-247, 2023 03.
Article in English | MEDLINE | ID: mdl-36695886

ABSTRACT

This study aims at the synthesis and initial biological evaluation of novel rhenium-tricarbonyl complexes of 3,3',4',5,7-pentahydroxyflavone (quercetin), 3,7,4΄-trihydroxyflavone (resokaempferol), 5,7-dihydroxyflavone (chrysin) and 4΄,5,7-trihydroxyflavonone (naringenin) as neuroprotective and anti-PrP agents. Resokaempferol was synthesized from 2,2΄,4-trihydroxychalcone by H2O2/NaOH. The rhenium-tricarbonyl complexes of the type fac-[Re(CO)3(Fl)(sol)] were synthesized by reacting the precursor fac-[Re(CO)3(sol)3]+ with an equimolar amount of the flavonoids (Fl) quercetin, resokaempferol, chrysin and naringenin and the solvent (sol) was methanol or water. The respective Re-flavonoid complexes were purified by semi-preparative HPLC and characterized by spectroscopic methods. Furthermore, the structure of Re-chrysin was elucidated by X-ray crystallography. Initial screening of the neuroprotective properties of these compounds included the in vitro assessment of the antioxidant properties by the DPPH assay as well as the anti-lipid peroxidation of linoleic acid in the presence of AAPH and their ability to inhibit soybean lipoxygenase. From the above studies, it was concluded that the complexes' properties are mainly correlated with the structural characteristics and the presence of the flavonoids. The flavonoids and their respective Re-complexes were also tested in vitro for their ability to inhibit the formation and aggregation of the amyloid-like abnormal prion protein, PrPSc, by employing the real-time quaking-induced conversion assay with recombinant PrP seeded with cerebrospinal fluid from patients with Creutzfeldt-Jakob disease. All the compounds blocked de novo abnormal PrP formation and aggregation.


Subject(s)
Antioxidants , Flavonoids , PrPSc Proteins , Rhenium , Humans , Antioxidants/pharmacology , Crystallography, X-Ray , Hydrogen Peroxide , Quercetin , Rhenium/chemistry , Flavonoids/chemistry , Flavonoids/pharmacology , PrPSc Proteins/drug effects , PrPSc Proteins/metabolism , Organometallic Compounds/chemistry , Organometallic Compounds/pharmacology
4.
Rheumatology (Oxford) ; 61(3): 1106-1114, 2022 03 02.
Article in English | MEDLINE | ID: mdl-34142120

ABSTRACT

OBJECTIVES: The current study evaluates survival rates among SSc-associated pulmonary arterial hypertension (SSc-PAH) patients on i.v. prostanoids, and short-term impact of i.v. prostanoids on clinical and haemodynamic parameters. METHODS: Baseline demographics, invasive and non-invasive data, European Society of Cardiology (ESC) score and REVEAL score of 81 SSc-PAH patients (median age 61 years, interquartile range 54-67 years, 84% females) were prospectively recorded, from November 2006 till November 2020, before initiation of i.v. prostanoids, and at first formal reassessment. Survival data were retrieved from National Health Service Spine and hospital databases. RESULTS: Significant improvements in clinical and haemodynamic parameters in response to i.v. prostanoid therapy were documented. Functional class (FC) (16.6% improved by 1FC, P =0.041), mean pulmonary arterial pressure (-6.5 mmHg, P =0.036), pulmonary vascular resistance (-2.6 WU, P =0.012), cardiac index (Q/m2) (+0.7 l/min/m2, P =0.003) and mixed venous oxygen saturation (SvO2) (+3%, P =0.036) improved. Estimated survival for CTD-PAH patients on i.v. prostanoids was 64%, 31% and 18%, at 1 year, 3 years and 5 years, respectively. Independent baseline predictors of mortality were older age (HR: 1.043, 95% CI: 1.011-1.075, P =0.007), higher N-terminal pro-brain natriuretic peptide levels (HR: 2.191, 95% CI: 1.131-4.243, P =0.020), and lower SvO2 levels (HR: 0.962, 95% CI: 0.926-0.998, P =0.039). High ESC risk or high and very high REVEAL score was associated with significantly worse survival compared with patients with lower risk scores, both at baseline and when reassessed after a median of 6.5 months. CONCLUSIONS: Survival among SSc-PAH patients on i.v. prostanoids remains poor, risk scoring at baseline and after 6.5 months of therapy improves prognostication.


Subject(s)
Prostaglandins/therapeutic use , Pulmonary Arterial Hypertension/drug therapy , Scleroderma, Systemic/drug therapy , Administration, Intravenous , Aged , Female , Humans , Male , Middle Aged , Pulmonary Arterial Hypertension/mortality , Scleroderma, Systemic/mortality , Survival Rate
5.
Epilepsia ; 63(12): 3204-3211, 2022 12.
Article in English | MEDLINE | ID: mdl-36208032

ABSTRACT

OBJECTIVE: Postictal generalized electroencephalography (EEG) suppression (PGES) is a surrogate marker of sudden unexpected death in epilepsy (SUDEP). It is still unclear which ictal phenomena lead to prolonged PGES and increased risk of SUDEP. Semiology features of generalized convulsive seizure (GCS type 1) have been reported as a predictor of prolonged PGES. Progressive slowing of clonic phase (PSCP) has been observed in GCSs, with gradually increasing inhibitory periods interrupting the tonic contractions. We hypothesized that PSCP is associated with prolonged PGES. METHODS: We analyzed 90 bilateral convulsive seizures in 50 consecutive patients (21 female; age: 11-62 years, median: 31 years) recruited to video-EEG monitoring. Five raters, blinded to all other data, independently assessed the presence of PSCP. PGES and seizure semiology were evaluated independently. We determined inter-rater agreement (IRA) for the presence of PSCP, and we evaluated its association, as well as that of other ictal features, with the occurrence of PGES, prolonged PGES (≥20 s) and very prolonged PGES (≥50 s) using multivariate logistic regression analysis. RESULTS: We found substantial IRA for the presence of PSCP (percent agreement: 80%; beyond-chance agreement coefficient: .655). PSCP was an independent predictor of the occurrence of PGES and prolonged PGES (p < .001). All seizures with very prolonged PGES had PSCP. GCS type 1 was an independent predictor of occurrence of PGES (p = .02) and prolonged PGES (p = .03) but not of very prolonged PGES. Only half of the seizures with very prolonged PGES were GCS type 1. SIGNIFICANCE: PSCP predicts prolonged PGES, emphasizing the importance of gradually increasing inhibitory phenomena at the end of the seizures. Our findings shed more light on the ictal phenomena leading to increased risk of SUDEP. These phenomena may provide basis for algorithms implemented into wearable devices for identifying GCS with increased risk of SUDEP.


Subject(s)
Seizures , Humans , Female , Child , Adolescent , Young Adult , Adult , Middle Aged , Seizures/diagnosis
6.
J Thromb Thrombolysis ; 51(4): 978-984, 2021 May.
Article in English | MEDLINE | ID: mdl-33386559

ABSTRACT

Disordered coagulation, endothelial dysfunction, dehydration and immobility contribute to a substantially elevated risk of deep venous thrombosis, pulmonary embolism (PE) and systemic thrombosis in coronavirus disease 2019 (Covid-19). We evaluated the prevalence of pulmonary thrombosis and reported RV (right ventricular) dilatation/dysfunction associated with Covid-19 in a tertiary referral Covid-19 centre. Of 370 patients, positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), 39 patients (mean age 62.3 ± 15 years, 56% male) underwent computed tomography pulmonary angiography (CTPA), due to increasing oxygen requirements or refractory hypoxia, not improving on oxygen, very elevated D-dimer or tachycardia disproportionate to clinical condition. Thrombosis in the pulmonary vasculature was found in 18 (46.2%) patients. However, pulmonary thrombosis did not predict survival (46.2% survivors vs 41.7% non-survivors, p = 0.796), but RV dilatation was less frequent among survivors (11.5% survivors vs 58.3% non-survivors, p = 0.002). Over the following month, we observed four Covid-19 patients, who were admitted with high and intermediate-high risk PE, and we treated them with UACTD (ultrasound-assisted catheter-directed thrombolysis), and four further patients, who were admitted with PE up to 4 weeks after recovery from Covid-19. Finally, we observed a case of RV dysfunction and pre-capillary pulmonary hypertension, associated with Covid-19 extensive lung disease. We demonstrated that pulmonary thrombosis is common in association with Covid-19. Also, the thrombotic risk in the pulmonary vasculature is present before and during hospital admission, and continues at least up to four weeks after discharge, and we present UACTD for high and intermediate-high risk PE management in Covid-19 patients.


Subject(s)
COVID-19 , Heart Ventricles , Pulmonary Embolism , Thrombolytic Therapy/methods , Ventricular Dysfunction, Right , COVID-19/blood , COVID-19/complications , COVID-19/mortality , COVID-19/therapy , Computed Tomography Angiography/methods , Female , Fibrin Fibrinogen Degradation Products/analysis , Heart Ventricles/diagnostic imaging , Heart Ventricles/pathology , Humans , Hypoxia/etiology , Hypoxia/therapy , Male , Middle Aged , Organ Size , Outcome and Process Assessment, Health Care , Pulmonary Embolism/diagnostic imaging , Pulmonary Embolism/etiology , Pulmonary Embolism/physiopathology , Risk Assessment , Risk Factors , SARS-CoV-2 , Ultrasonography, Interventional/methods , United Kingdom , Ventricular Dysfunction, Right/diagnosis , Ventricular Dysfunction, Right/etiology , Ventricular Dysfunction, Right/physiopathology
7.
Healthcare (Basel) ; 12(18)2024 Sep 19.
Article in English | MEDLINE | ID: mdl-39337215

ABSTRACT

BACKGROUND: The human microbiome, comprising trillions of microorganisms, significantly influences human health and disease. During critical periods like the perinatal phase, the microbiome undergoes significant changes, impacting lifelong health. Tobacco smoke, a known environmental pollutant, has adverse effects on health, particularly during pregnancy. Despite this, its association with the perinatal microbiome remains understudied. METHODS: We conducted a systematic review to integrate findings on perinatal tobacco smoke exposure and its association with the maternal and neonatal microbiomes. We conducted a comprehensive literature search in the PubMed, Scopus, and Web of Science databases from January 2000 to February 2024. We selected studies that met predefined inclusion criteria and performed data extraction. RESULTS: The review included eight studies that revealed diverse associations of perinatal tobacco exposure with the maternal and neonatal microbiome. Active smoking during pregnancy was linked to alterations in microbiome composition and diversity in children. Maternal smoking correlated with increased Firmicutes abundance and decreased Akkermansia muciniphila abundance in offspring. Additionally, exposure to thirdhand smoke in neonatal intensive care units was related to infant microbiome diversity. Infants exposed to tobacco smoke showed various microbial changes, suggesting potential implications for childhood health outcomes, including obesity risk. CONCLUSIONS: Perinatal exposure to tobacco smoke exerts significant influence on the maternal and neonatal microbiomes, with potential implications for long-term health outcomes. Addressing socioeconomic and psychological barriers to smoking cessation, implementing stricter smoking regulations, and promoting public health campaigns are essential steps towards reducing tobacco-related harm during the perinatal period. Further longitudinal studies and standardized assessment methods are needed to validate these findings and guide the development of effective preventive measures.

8.
Foods ; 13(12)2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38928839

ABSTRACT

This study aims to optimize the frying process of natural porous materials (like potatoes) by enhancing heat and mass transfer phenomena through significant horizontal acceleration values following a spatially periodic pattern that alternates the intensity of inertia forces uniformly across the frying vessel. The generated horizontal inertial forces act complementary to the normal vertical buoyancy force for the creation of agitating convective currents in the oil and for vapor bubbles' departure from the surface of frying objects. The use of an innovative frying device, employing simultaneous rotation around two vertical axes at a different speed in a so-called planetary type of motion, serves to facilitate this production of horizontal acceleration values that allows intensifying the performance of frying. The present investigation examines the impact of rotational speed, along with oil temperature and frying duration, on the water loss and sensory evaluation of fried items. The potato-to-oil ratios typically found in industrial frying operations are employed. The intended outcome is a more energy-efficient frying process, reduced cooking times, and a healthier product due to lower frying temperatures and the consequent decreased formation of harmful compounds. This approach carries substantial implications for food processing, potentially enhancing productivity while limiting operational costs.

9.
Article in English | MEDLINE | ID: mdl-39292395

ABSTRACT

Dobutamine stress echocardiography is an integral part of the evaluation of aortic stenosis (AS) severity in low-gradient AS. In transthoracic echocardiography, in 20% of the patients, the highest aortic valve peak transvalvular velocity and mean gradient are achieved with continuous wave Doppler, from the suprasternal or right parasternal view. We present a case of a 79-year-old-male, with low-gradient aortic stenosis, where the highest peak aortic valve velocity and mean gradient, were consistently obtained from the right parasternal view, during all stages of a dobutamine stress echocardiogram. Use of the right parasternal view was important in avoiding overestimation of aortic valve area and underestimation of aortic valve mean gradients and therefore AS severity at rest. Furthermore, it correctly identified significant increase of aortic valve mean gradients during stress and therefore confirmed the diagnosis of severe AS. This case report highlights the importance of routinely attempting right parasternal view, in patients undergoing stress echocardiography to ensure the maximum possible aortic valve gradient is obtained.

10.
Cureus ; 15(3): e36774, 2023 Mar.
Article in English | MEDLINE | ID: mdl-37123737

ABSTRACT

Shoulder arthroscopy is considered a very safe surgical procedure; however, there are possible complications that are prevalent or devastating. This article presents a 52-year-old woman scheduled for elective arthroscopic rotator cuff repair under general anesthesia in the lateral decubitus position. Postoperatively, the patient experienced dyspnea, chest pain, and oxygen desaturation, and a diagnosis of pneumothorax was made. A chest tube was inserted promptly and the patient was discharged in a good condition, experiencing an uneventful follow-up for the next four months. Knowledge of this uncommon complication may enable both surgeons and anesthesiologists to set up preventive and early therapeutic management.

11.
A A Pract ; 17(6): e01689, 2023 Jun 01.
Article in English | MEDLINE | ID: mdl-37335888

ABSTRACT

We describe virtual reality (VR) used as an effective intervention to treat severe chronic neuropathic pain in an otherwise healthy adolescent boy. The patient presented with severe pain and allodynia in the right foot after calcaneus extension surgery. Multiple medical and psychological interventions were unsuccessful over 3 years, with the pain leading the patient to drop out of school. VR gaming intervention provided the patient with significant pain relief and substantial improvement in functionality. This case report details the VR intervention and its effect on the patient's severe, medically refractory pain syndrome.


Subject(s)
Neuralgia , Pain, Intractable , Virtual Reality , Male , Humans , Child , Adolescent , Neuralgia/therapy , Pain Management , Lower Extremity
12.
Epileptic Disord ; 24(2): 315-322, 2022 Apr 01.
Article in English | MEDLINE | ID: mdl-34859792

ABSTRACT

OBJECTIVE: To characterize in detail the electroclinical features of typical absence seizures and elucidate whether EEG or semiology features, alone or in combination, can predict long-term therapeutic outcome. METHODS: We analysed video-EEG recordings from 213 typical absence seizures from 61 patients with idiopathic generalized epilepsy. We extracted semiological features, in addition to hallmark manifestations (motor/behavioural arrest, non-responsiveness), their location, timing and frequency. We evaluated the duration and frequency of generalized spike-wave discharges and the presence of polyspikes. We used a supervised machine-learning approach (random forest) to search for classifier features for long-term therapeutic outcome (>one year). RESULTS: Besides the hallmark manifestations, additional semiological features were identified in 87% of patients (75% of seizures). The most common additional semiological features were automatisms and eye blinking (observed in 45% and 41.5% of seizures, respectively). Automatisms were associated with longer seizure duration, and oral automatisms occurred earlier compared to limb automatisms (4.03 vs. 6.19 seconds; p=0.005). The mean duration of the ictal spike-wave discharges was nine seconds, and the median frequency was 3 Hz. Polyspikes occurred in 46 seizures (21.6%), in 19 patients (31%). Median follow-up was five years, and 73% of the patients were seizure-free at the end of the follow-up. None of the semiological features, alone or in combination, were predictors of therapeutic outcome. The only significant classifier was the presence of polyspikes, predicting a non-seizure-free outcome with an accuracy of 73% (95% CI: 70-77%), positive predictive value of 92% (95% CI: 84-98%) and negative predictive value of 60% (95% CI: 39-81%). SIGNIFICANCE: Semiological features, in addition to behavioural arrest and non-responsiveness, are common in typical absence seizures, but they do not predict long-term therapeutic outcome. The presence of polyspikes has a high positive predictive value for unfavourable therapeutic outcome, and their presence should therefore be included when reporting EEGs in patients with typical absence seizures.


Subject(s)
Epilepsy, Absence , Automatism , Electroencephalography , Epilepsy, Absence/drug therapy , Humans , Predictive Value of Tests , Seizures/drug therapy
13.
Epileptic Disord ; 24(3): 447-495, 2022 06 01.
Article in English | MEDLINE | ID: mdl-35770761

ABSTRACT

This educational topical review and Task Force report aims to address learning objectives of the International League Against Epilepsy (ILAE) curriculum. We sought to extract detailed features involving semiology from video recordings and interpret semiological signs and symptoms that reflect the likely localization for focal seizures in patients with epilepsy. This glossary was developed by a working group of the ILAE Commission on Diagnostic Methods incorporating the EEG Task Force. This paper identifies commonly used terms to describe seizure semiology, provides definitions, signs and symptoms, and summarizes their clinical value in localizing and lateralizing focal seizures based on consensus in the published literature. Video-EEG examples are included to illustrate important features of semiology in patients with epilepsy.


Subject(s)
Epilepsy , Seizures , Electroencephalography/methods , Epilepsy/diagnosis , Humans , Seizures/diagnosis , Video Recording
14.
Epileptic Disord ; 24(2): 353-358, 2022 Apr 01.
Article in English | MEDLINE | ID: mdl-34903504

ABSTRACT

To assess whether trainees can learn and implement the operational definition of interictal epileptiform discharges (IEDs) of the International Federation of Clinical Neurophysiology (IFCN), based on six morphological criteria, and whether its implementation improves their diagnostic performance and inter-rater agreement (IRA). Seven trainees evaluated a balanced dataset of 70 EEG samples containing sharp transients (35 from patients with epilepsy and 35 from patients with non-epileptic paroxysmal events). The gold standard was derived from video-EEG recordings of the habitual clinical episodes. The trainees individually reviewed the EEGs, blinded to all other data, in two successive training sessions, three months apart. The second session was preceded by a teaching module about the IFCN criteria, and the trainees implemented them during the second reading session. By implementing the IFCN criteria, trainees significantly improved their specificity (94.29% vs. 77.14%; p=0.01) and overall accuracy (81.43% vs. 64.29%; p=0.01) for identifying IEDs. Sensitivity also improved but did not reach the level of statistical significance (77.14% vs. 60%; p=0.07). IRA improved significantly from fair (k=0.31; 95% CI: 0.22-0.40) to high-moderate (k=0.56; 95% CI:0.46-0.67) beyond-chance agreement. Implementing the IFCN criteria significantly improves the diagnostic performance and IRA of trainees in identifying IEDs. Teaching the IFCN criteria for IEDs will increase specificity in clinical EEG and avoid over-reading, the most common cause of misdiagnosing epilepsy.


Subject(s)
Electroencephalography , Epilepsy , Epilepsy/diagnosis , Humans , Observer Variation , Video Recording
15.
Biomedicines ; 10(11)2022 Nov 08.
Article in English | MEDLINE | ID: mdl-36359367

ABSTRACT

Multiple sclerosis (MS) and its various comorbidities that may be observed are of great interest due to the complexity of MS pathophysiology and all of the immunological changes that follow. The incidence of cancer in MS has been investigated for several years, as not only does it affect ongoing therapeutical decisions, but also, certain disease-modifying treatments (DMTs) may increase the risk of tumorigenesis. For the first time, we present a case of a female patient with pediatric-onset MS (POMS) and multiple endocrine neoplasia 2B (MEN2B) and analyze the immunological impact of these diseases on the therapeutical choice, under the umbrella of her COVID-19 infection and the SARS-CoV-2 pandemic as a whole. We also review the existing literature regarding the immunogenetic and immunological correlations between these two extremely rare diseases and discuss the most suitable treatment for our case, which seems to be an anti-CD20 agent due to a better outcome in putative MS worsening and tumor progression, when killer immunoglobulin-like receptors' (KIR) expression is reduced in natural killer (NK) cells. We also broaden our concerns on this comorbidity issue, at the same time focusing on the future research needed in this unexplored field of the comorbidity of MS and cancers.

16.
Mult Scler Relat Disord ; 63: 103858, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35594634

ABSTRACT

The exact immunopathogenesis, genetic mechanisms and triggering factors underlying myasthenia gravis (MG) and neuromyelitis optica (NMO) remain unknown and the coexistence may underline an aetiopathogenetic link be- tween these two diseases. We report the cases of two thymectomized patients with acetylcholine receptor (AChR) antibody (Ab)-positive MG who eventually developed AQP4-NMO. Next-Generation Sequencing (NGS) analysis showed that patient-1 had two HLA alleles previously associated with MG, mainly HLA-A*01:01:01 and HLA-DRB1*03:01, present in a haplotype in Caucasian MG patients (HLA-A1-B8-DR3-DQ2). Patient-2, expressed HLA-C*07:01:01, a well characterized MG risk factor and HLA-DQB1*05:02:01, previously described both in MG and NMO patients. Finally, we observed two common alleles in patient 1 and 2, HLA-DQA1*05:01:01 and HLA-DPB1*04:02:01. We believe that this study provides clinical evidence of the role of specific HLA alleles in rare forms of combined human peripheral and CNS autoimmunity, a fact that enhances the aim towards tailor-made therapeutic decision making.


Subject(s)
Myasthenia Gravis , Neuromyelitis Optica , Alleles , Autoantibodies , Genotype , High-Throughput Nucleotide Sequencing , Humans , Myasthenia Gravis/complications , Myasthenia Gravis/genetics , Neuromyelitis Optica/complications , Neuromyelitis Optica/genetics , Receptors, Cholinergic
17.
Psychon Bull Rev ; 29(2): 613-626, 2022 Apr.
Article in English | MEDLINE | ID: mdl-34755319

ABSTRACT

The Action-sentence Compatibility Effect (ACE) is a well-known demonstration of the role of motor activity in the comprehension of language. Participants are asked to make sensibility judgments on sentences by producing movements toward the body or away from the body. The ACE is the finding that movements are faster when the direction of the movement (e.g., toward) matches the direction of the action in the to-be-judged sentence (e.g., Art gave you the pen describes action toward you). We report on a pre-registered, multi-lab replication of one version of the ACE. The results show that none of the 18 labs involved in the study observed a reliable ACE, and that the meta-analytic estimate of the size of the ACE was essentially zero.


Subject(s)
Comprehension , Language , Humans , Movement , Reaction Time
18.
Neurodegener Dis ; 8(3): 146-8, 2011.
Article in English | MEDLINE | ID: mdl-20714119

ABSTRACT

To our knowledge, we describe for the first time the case of a male patient with sporadic young-onset amyotrophic lateral sclerosis, most likely attributed to chronic regular cocaine use and abuse. Our case supports the view that cocaine use and abuse may trigger a process of motor neuron degeneration by mechanisms implicating alterations in the neurobiology of the excitatory neurotransmitter glutamate and its receptors.


Subject(s)
Amyotrophic Lateral Sclerosis/chemically induced , Amyotrophic Lateral Sclerosis/diagnosis , Cocaine-Related Disorders/complications , Cocaine/adverse effects , Adult , Age of Onset , Amyotrophic Lateral Sclerosis/pathology , Glutamic Acid/metabolism , Humans , Male , Motor Neurons/metabolism , Motor Neurons/pathology , Nerve Degeneration/pathology , Receptors, Glutamate/metabolism
19.
Cureus ; 13(12): e20508, 2021 Dec.
Article in English | MEDLINE | ID: mdl-35070545

ABSTRACT

PURPOSE: To compare in terms of failure rates, clinical and functional outcomes the all-inside anterior cruciate ligament (ACL) reconstruction with double suspensory fixation and quadrupled semitendinosus autograft with anteromedial portal doubled semitendinosus-gracilis autograft with suspensory femoral and tibial interference screw fixation. METHODS: Forty-four patients were sequentially allocated into two groups and followed up prospectively for a 3-year period. The first group was the all-inside group and the second was the "classic" AM portal with S-G graft. Each group comprised 22 patients. All patients underwent KT-1000 testing preoperatively and at a minimum of six months postoperatively. Visual pain analog was recorded preoperatively and during both the immediate postoperative period and throughout the follow-up. The Lysholm knee score was used comparing the preoperative and 24-month timepoints. RESULTS: The visual analog scale (VAS) pain scores showed a significant difference at two weeks (2.4 vs 1.8, p < 0.01 ) in favor of the all-inside group, but that difference disappeared in the later follow-up visits. Similarly, there was no significant difference with Lysholm knee scores at two years and the side-to-side anterior translation measured with the KT-1000. At the three-year mark, there were no failures in either of the groups. CONCLUSION: The all-inside technique appears to be equivalent in terms of outcomes to the classic S-G technique, and given the less-invasive nature and versatility in graft choices is a safe and effective technique for primary ACL reconstruction.

20.
Hellenic J Cardiol ; 62(1): 4-12, 2021.
Article in English | MEDLINE | ID: mdl-32387594

ABSTRACT

Beta-thalassaemia is a genetic disease with different clinical aspects, which can lead to heart failure with a multifactorial mechanism. Over the last years, growing interest has been reported for biomarkers that may help in the diagnosis, staging and prognosis of heart disease at an early stage, in patients with beta-thalassaemia. This review will highlight the current clinical value of cardiac biomarkers in patients with beta-thalassaemia and the ongoing research for a possible expanded future use.


Subject(s)
Heart Failure , Thalassemia , beta-Thalassemia , Biomarkers , Heart Failure/diagnosis , Humans , Prognosis , Thalassemia/diagnosis , beta-Thalassemia/diagnosis
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